Literature search at Indiana University, Bloomington, Indiana
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#1: 56 CORPUS-CALLOSUM / all subheadings
#2: 64 AGENESIS
#3: 13 #1 and #2
TI: Interstitial deletion of chromosome 6q: precise definition of the breakpoints by microdissection, DNA amplification, and reverse painting.
AU: Rubtsov-N; Senger-G; Kuzcera-H; Neumann-A; Kelbova-C; Junker-K; Beensen-V; Claussen-U
AD: Institute of Human Genetics and Anthropology, University Jena, Germany.
SO: Hum-Genet. 1996 Jun; 97(6): 705-9
ISSN: 0340-6717
PY: 1996
LA: ENGLISH
CP: GERMANY
AB: Routine chromosomal analysis using GTG-banding alone showed a mosaic terminal deletion of 6q in a 14-week-old boy with developmental retardation, facial anomalies, agenesis of corpus callosum, cleft palate, hypotonia, short neck and pterygium colli, and minor anomalies of hands and feet. Discrepancies between the clinical findings on our patient and those described in the literature on patients having terminal deletions led to a more precise analysis of the karyotype. Reverse painting was performed on normal G-banded metaphases for exact determination of the breakpoints and on metaphases of the patient for evaluation of mosaicism. A DNA library that was obtained by microdissection of three deleted chromosomes 6 was used as a painting probe. Subsequent DNA amplification was performed with the help of topoisomerase-pretreated degenerate oligonucleotide primers. Unexpectedly, the hybridization pattern on normal metaphase chromosomes revealed an interstitial deletion with breakpoints at 6q25.1 and 6q27 instead of a terminal deletion. Hybridization on metaphases of the patient showed one deleted chromosome 6 in all metaphases analyzed at a higher resolution rather than mosaicism as previously assumed [karyotype, 46,XY,del(6)(q25.1 --> q27)]. We assume that in the single cases of 6q- described in the literature the deletions are misclassified. This might be due to difficulties in distinguishing between interstitial and terminal deletions at 6q and in precisely defining chromosomal breakpoints after GTG-banding alone.
MESH: Base-Sequence; Chromosome-Banding-methods; Cleft-Palate-genetics; Corpus-Callosum-abnormalities; Face-abnormalities; Infant-; Molecular-Sequence-Data; Polymerase-Chain-Reaction-methods; Psychomotor-Disorders-genetics
MESH: *Abnormalities,-Multiple-genetics; *Chromosome-Deletion; *Chromosomes,-Human,-Pair-6-genetics; *Genetic-Techniques
TG: Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 96235260
UD: 9609
TI: Antenatal ultrasonographic findings differentiating complete from partial agenesis of the corpus callosum.
AU: Tepper-R; Zalel-Y; Gaon-E; Fejgin-M; Beyth-Y
AD: Department of Obstetrics and Gynecology, Sapir Medical Center, Kfar-Saba, Israel.
SO: Am-J-Obstet-Gynecol. 1996 Mar; 174(3): 877-8
ISSN: 0002-9378
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: Four cases of complete (three) and partial (one) agenesis were evaluated ultrasonographically. The frontal lobe/biparietal diameter ratio were evaluated in 113 normal fetuses and compared with those ratios in fetuses with corpus callosum agenesis. In the presence of the classic ultrasonographic features of agenesis of the corpus callosum, frontal lobe shortening, along with absence of the cavum septi pellucidi, might contribute to the diagnosis of complete agenesis of the corpus callosum and distinguish it from partial agenesis.
MESH: Adult-; Corpus-Callosum-ultrasonography; Diagnosis,-Differential; Frontal-Lobe-ultrasonography; Gestational-Age; Pregnancy-
MESH: *Corpus-Callosum-abnormalities; *Ultrasonography,-Prenatal
TG: Female; Human
PT: JOURNAL-ARTICLE
AN: 96203542
UD: 9609
SB: AIM
TI: Mice homozygous for a modified beta-amyloid precursor protein (beta APP) gene show impaired behavior and high incidence of agenesis of the corpus callosum.
AU: Muller-U; Cristina-N; Li-ZW; Wolfer-DP; Lipp-HP; Rulicke-T; Brandner-S; Aguzzi-A; Weissman-C
AD: Institut fur Molekularbiologie I, Universitat Zurich, Switzerland.
SO: Ann-N-Y-Acad-Sci. 1996 Jan 17; 777: 65-73
ISSN: 0077-8923
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: The amyloid precursor protein (beta APP) gene of the mouse was disrupted by homologous recombination; however, contrary to expectation, brain and other tissues still contained beta APP-specific RNA, albeit at a level 5-10 fold lower than wild-type and lacking the disrupted exon, which had been spliced out. The brain contained shortened beta APP-specific protein at a low level. Mutant mice were severely impaired in spatial learning and exploratory behavior and showed increased incidence of agenesis of the corpus callosum.
MESH: Brain-pathology; Gene-Expression; Incidence-; Mice,-Inbred-C57BL
MESH: *Amyloid-beta-Protein-Precursor-genetics; *Behavior,-Animal; *Corpus-Callosum-abnormalities; *Genes-; *Homozygote-; *Mice-genetics
TG: Animal; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: 0
NM: Amyloid-beta-Protein-Precursor
AN: 96187001
UD: 9608
TI: Agenesis and lipoma of corpus callosum. Case report.
AU: Silva-DF; Lima-MM; Oliveira-CO; Oliveira-WN; Anghinah-R; Lima-JG
AD: Escola Paulista de Medicina (EPM), Sao Paulo, Brasil.
SO: Arq-Neuropsiquiatr. 1995 Sep; 53(3-B): 667-70
ISSN: 0004-282X
PY: 1995
LA: ENGLISH
CP: BRAZIL
AB: The agenesis and lipoma of the corpus callosum is a very rare association. We report the case of a 18-years old woman with rare epileptic seizures since the age of 6 years, normal neurological examination, as well as normal electroencephalogram. The brain computed tomography scanning and the magnetic resonance showed the lipoma and the agenesis of the corpus callosum.
MESH: Adolescence-; Magnetic-Resonance-Imaging; Tomography,-X-Ray-Computed
MESH: *Brain-Neoplasms-diagnosis; *Corpus-Callosum-abnormalities; *Lipoma-diagnosis
TG: Case-Report; Female; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 96139200
UD: 9605
TI: Abnormalities of the corpus callosum in children prenatally exposed to alcohol.
AU: Riley-EP; Mattson-SN; Sowell-ER; Jernigan-TL; Sobel-DF; Jones-KL
AD: Department of Psychology, San Diego State University, California, USA.
SO: Alcohol-Clin-Exp-Res. 1995 Oct; 19(5): 1198-202
ISSN: 0145-6008
PY: 1995
LA: ENGLISH
CP: UNITED-STATES
AB: For 20 years, it has been known that fetal alcohol syndrome (FAS) is associated with abnormal brain development. Early autopsy studies point to the corpus callosum as one area affected by heavy alcohol exposure. Little is known, however, about the integrity of the brain in alcohol-exposed children who survive the perinatal period. This study was designed to assess the corpus callosum in living children exposed to high doses of alcohol prenatally. Thirteen children with histories of significant prenatal alcohol exposure and 12 normal control children were evaluated using magnetic resonance imaging. Using the midsagittal section, images were measured for the area of the corpus callosum using a computer-assisted measurement technique. In addition to the overall area, five equiangular regions were determined for each corpus callosum. Of the 13 alcohol-exposed children assessed, two had agenesis of the corpus callosum. The remaining alcohol-exposed children had significantly smaller overall callosal areas, as well as smaller regional areas of four of the five callosal regions, when compared with the normal control children. Importantly, when corrected for brain size, three of the five callosal regions were still smaller in the alcohol-exposed children, although overall area of the corpus callosum was no longer significantly different. These results suggest that prenatal exposure to high levels of alcohol is associated with abnormalities of the corpus callosum. They verify callosal agenesis in children with FAS, which previously had only been noted in autopsy reports.(ABSTRACT TRUNCATED AT 250 WORDS)
MESH: Adolescence-; Brain-pathology; Child-; Dose-Response-Relationship,-Drug; Fetal-Alcohol-Syndrome-diagnosis; Follow-Up-Studies; Image-Processing,-Computer-Assisted; Magnetic-Resonance-Imaging
MESH: *Corpus-Callosum-pathology; *Fetal-Alcohol-Syndrome-pathology
TG: Female; Human; Male; Support,-U.S.-Gov't,-Non-P.H.S.; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE
CN: AA10417AANIAAA; AA06420AANIAAA; 5P50NS22343O9NSNINDS
AN: 96119375
UD: 9605
TI: Supratentorial interhemispheric cysts associated with callosal agenesis: surgical treatment and outcome in 16 children.
AU: Lena-G; van-Calenberg-F; Genitori-L; Choux-M
AD: Department of Pediatric Neurosurgery, Hopital des Enfants, La Timone, Marseille, France.
SO: Childs-Nerv-Syst. 1995 Oct; 11(10): 568-73
ISSN: 0256-7040
PY: 1995
LA: ENGLISH
CP: GERMANY
AB: Cerebrospinal-fluid-filled interhemispheric cysts associated with callosal agenesis are relatively rare lesions, and have been subject to a varied and confusing terminology. From a pragmatic surgical point of view, we believe that the dorsal III ventricular cyst [35] and the giant interhemispheric cyst [23], although of different embryological origin, can be classified as one group. The most important condition that must be distinguished from interhemispheric cysts is the alobar form of holoprosencephaly. We describe the clinical symptomatology in 16 children who were surgically treated with a cysto-peritoneal shunt. The outcome, both neurologically and developmentally, was good in the large majority of cases, and compared favorably to similar cases in the older literature. It therefore seems reasonable, at the present state of knowledge and until further studies clarify the origin and natural history of these cysts, to treat them as early as possible in order to prevent gross developmental deficits.
MESH: Arachnoid-Cysts-congenital; Arachnoid-Cysts-diagnosis; Arachnoid-Cysts-surgery; Brain-Diseases-diagnosis; Brain-Diseases-surgery; Child,-Preschool; Corpus-Callosum-pathology; Corpus-Callosum-surgery; Cysts-diagnosis; Cysts-surgery; Follow-Up-Studies; Infant-; Infant,-Newborn; Magnetic-Resonance-Imaging; Neurologic-Examination; Postoperative-Complications-diagnosis; Pregnancy-; Tomography,-X-Ray-Computed; Ultrasonography,-Prenatal; Ventriculoperitoneal-Shunt
MESH: *Brain-Diseases-congenital; *Corpus-Callosum-abnormalities; *Cysts-congenital; *Dominance,-Cerebral-physiology
TG: Female; Human; Male
PT: JOURNAL-ARTICLE
AN: 96120738
UD: 9605
TI: CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.
AU: Fransen-E; Lemmon-V; Van-Camp-G; Vits-L; Coucke-P; Willems-PJ
AD: Department of Medical Genetics, University of Antwerp, Belgium.
SO: Eur-J-Hum-Genet. 1995; 3(5): 273-84
ISSN: 1018-4813
PY: 1995
LA: ENGLISH
CP: SWITZERLAND
AB: L1 is a neuronal cell adhesion molecule with important functions in the development of the nervous system. The gene encoding L1 is located near the telomere of the long arm of the X chromosome in Xq28. We review here the evidence that several X-linked mental retardation syndromes including X-linked hydrocephalus (HSAS), MASA syndrome, X-linked complicated spastic paraparesis (SP1) and X-linked corpus callosum agenesis (ACC) are all due to mutations in the L1 gene. The inter- and intrafamilial variability in families with an L1 mutation is very wide, and patients with HSAS, MASA, SP1 and ACC can be present within the same family. Therefore, we propose here to refer to this clinical syndrome with the acronym CRASH, for Corpus callosum hypoplasia, Retardation, Adducted thumbs, Spastic paraplegia and Hydrocephalus.
MESH: Corpus-Callosum-abnormalities; Diagnosis,-Differential; Genotype-; Hydrocephalus-genetics; Linkage-Genetics; Mental-Retardation-genetics; Movement-Disorders-genetics; Paraplegia-genetics; Phenotype-; Prenatal-Diagnosis; Sex-Chromosome-Abnormalities-diagnosis; Syndrome-; Thumb-abnormalities
MESH: *Abnormalities,-Multiple-genetics; *Mutation-; *NCAM-genetics; *Sex-Chromosome-Abnormalities-genetics; *X-Chromosome
TG: Human; Support,-Non-U.S.-Gov't; Support,-U.S.-Gov't,-P.H.S.
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
RN: 0; 0
NM: L1-antigen; NCAM
AN: 96153146
UD: 9605
TI: The gene responsible for a severe form of peripheral neuropathy and agenesis of the corpus callosum maps to chromosome 15q [see comments]
CM: Comment in: Am J Hum Genet 1996 Jan;58(1):7-16
AU: Casaubon-LK; Melanson-M; Lopes-Cendes-I; Marineau-C; Andermann-E; Andermann-F; Weissenbach-J; Prevost-C; Bouchard-JP; Mathieu-J; Rouleau-GA
AD: Centre for Research in Neuroscience, Montreal General Hospital Research Institute, Quebec, Canada.
SO: Am-J-Hum-Genet. 1996 Jan; 58(1): 28-34
ISSN: 0002-9297
PY: 1996
LA: ENGLISH
CP: UNITED-STATES
AB: Peripheral neuropathy with or without agenesis of the corpus callosum (ACCPN) is a devastating neurodegenerative disorder that is transmitted as an autosomal recessive trait. Genealogical studies in a large number of affected French Canadian individuals suggest that ACCPN results from a single founder mutation. A genomewide search using 120 microsatellite DNA markers in 14 French Canadian families allowed the mapping of the ACCPN gene to a 5-cM region on chromosome 15q13-q15 that is flanked by markers D15S1040 and D15S118. A maximum two-point LOD score of 11.1 was obtained with the marker D15S971 at a recombination fraction of 0. Haplotype analysis and linkage disequilibrium support a founder effect. These findings are the first step in the identification of the gene responsible for ACCPN, which may shed some light on the numerous conditions associated with the progressive peripheral neuropathy or agenesis of the corpus callosum.
MESH: Chromosome-Mapping; Genetic-Markers; Linkage-Genetics; Lod-Score; Pedigree-; Recombination,-Genetic; Reference-Values; Syndrome-
MESH: *Chromosomes,-Human,-Pair-15; *Corpus-Callosum-abnormalities; *Peripheral-Nervous-System-Diseases-genetics
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
RN: 0
NM: Genetic-Markers
AN: 96108963
UD: 9604
TI: Mid-portion agenesis of corpus callosum in a presumed Baller-Gerold syndrome.
AU: Dunac-A; Van-Bogaert-P; David-P; Avni-EF; Paduart-O; Szliwowski-HB; Van-Regemorter-N
AD: Department of Neurology (Pediatric Neurology), Hopital Erasme, Universite Libre de Bruxelles, Belgium.
SO: Neuropediatrics. 1995 Oct; 26(5): 273-5
ISSN: 0174-304X
PY: 1995
LA: ENGLISH
CP: GERMANY
AB: We report an association of trigonocephaly and thumb hypoplasia in a 6.5-year-old boy, diagnosed as Baller-Gerold syndrome. In addition to craniosynostosis and radial limb defect, which are constant in this syndrome, our patient presents two unusual features: the first is an epidermal nevus and the second is an agenesis of the middle portion of corpus callosum. This unique type of callosal agenesis in the context of a polymalformative disorder supports the hypothesis that partial agenesis of corpus callosum may be due to an event occurring before the 12th week gestation with continued development of the midline structures.
MESH: Child-; Magnetic-Resonance-Imaging; Nevus-diagnosis; Skin-Neoplasms-diagnosis; Syndrome-
MESH: *Abnormalities,-Multiple-diagnosis; *Corpus-Callosum-abnormalities; *Craniosynostoses-diagnosis; *Thumb-abnormalities
TG: Case-Report; Human; Male
PT: JOURNAL-ARTICLE
AN: 96141218
UD: 9604
TI: The EEG in acallosal children. Coherence values in the resting state: left hemisphere compensatory mechanism?
AU: Koeda-T; Knyazeva-M; Njiokiktjien-C; Jonkman-EJ; De-Sonneville-L; Vildavsky-V
AD: Division of Child Neurology, Tottori University Faculty of Medicine, Yonago, Japan.
SO: Electroencephalogr-Clin-Neurophysiol. 1995 Dec; 95(6): 397-407
ISSN: 0013-4694
PY: 1995
LA: ENGLISH
CP: IRELAND
AB: Resting EEG interhemispheric and intrahemispheric coherences (ICoh and HCoh) in the theta, alpha and beta bands were studied in 7 patients with agenesis of the corpus callosum (5 children, aged 10-14 years, and 2 adults) and 2 groups of sex- and age-matched normal children and adults (42 subjects). In patients the ICohs (F3/F4, C3/C4, P3/P4, O1/O2) were lower than in the normal sample. The ICoh decrease, corresponding with the completeness of commissural agenesis, showed the essential role of the corpus callosum in interhemispheric EEG synchronization. A remarkable new fact was found, namely lower right hemisphere HCoh in the acallosal patients in comparison to the normals, suggesting reduced connectivity of the right hemisphere. It is assumed that the deviant HCoh patterns in the patients, most pronounced in the beta band, are indicative of compensatory left hemisphere mechanisms, accounting for a specific brain plasticity phenomenon in acallosal subjects.
MESH: Adolescence-; Adult-; Brain-Mapping; Child-; Electroencephalography-
MESH: *Brain-Diseases-physiopathology; *Corpus-Callosum-physiopathology
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 96136112
UD: 9604
TI: Extent and limits of callosal plasticity: presence of disconnection symptoms in callosal agenesis.
AU: Lassonde-M; Sauerwein-HC; Lepore-F
AD: Departement de Psychologie, Universite de Montreal, Quebec, Canada.
SO: Neuropsychologia. 1995 Aug; 33(8): 989-1007
ISSN: 0028-3932
PY: 1995
LA: ENGLISH
CP: ENGLAND
AB: Although earlier studies have emphasized the absence of 'split-brain' symptoms in callosal agenesis patients, the notion of an 'asymptomatic' acallosal brain has lately been challenged. We report a number of findings that are indicative of an interruption of interhemispheric communication and integration in individuals lacking the corpus callosum. Several groups of patients with callosal pathology (acallosals, patients with commissurotomy or callosotomy, either complete or partial) were compared to matched controls. Interhemispheric transfer was tested in two different experiments involving pointing to a light source while maintaining central fixation. In the first experiment, a learning paradigm was used to measure transfer of a motor skill from the trained to the untrained hand. In the second experiment, subjects pointed to visual targets at different locations on a perimeter. Midline fusion, a recurrent theme when describing callosal function, was assessed using tasks which included depth perception with binocular and/or monocular cues, two-point discrimination thresholds and sound localization in the peri-central and lateral fields. Subjects with callosal pathology were impaired on all tasks involving transfer of motor and visuo-spatial skills and on some of the tasks requiring sensory integration of visual and tactile information across the body midline. We conclude that these functions require an intact corpus callosum since none of these deficits were seen in controls equated for IQ.
MESH: Adolescence-; Adult-; Corpus-Callosum-physiopathology; Corpus-Callosum-surgery; Depth-Perception-physiology; Laterality-physiology; Middle-Age; Neural-Pathways-physiopathology; Postoperative-Complications-physiopathology; Psychomotor-Performance-physiology; Touch-physiology; Visual-Fields-physiology
MESH: *Attention-physiology; *Corpus-Callosum-abnormalities; *Dominance,-Cerebral-physiology; *Neuronal-Plasticity-physiology
TG: Female; Human; Male; Support,-Non-U.S.-Gov't
PT: JOURNAL-ARTICLE
AN: 96059978
UD: 9603
TI: Corpus callosum and simple visuomotor integration.
AU: Berlucchi-G; Aglioti-S; Marzi-CA; Tassinari-G
AD: Dipartimento di Scienze Neurologiche e della Visione, Universita di Verona, Italy.
SO: Neuropsychologia. 1995 Aug; 33(8): 923-36
ISSN: 0028-3932
PY: 1995
LA: ENGLISH
CP: ENGLAND
AB: Malcolm Jeeves was the first to demonstrate lengthened interhemispheric transmission times in subjects with agenesis of the corpus callosum by using a simple reaction time paradigm with lateralized unstructured light stimuli and crossed and uncrossed hand responses. Uncrossed responses can be integrated within one hemisphere, whereas crossed responses require a communication between the two hemispheres. In the normal brain this communication is effected rapidly by the corpus callosum, whereas in the acallosal brain it must occur much more slowly by way of less efficient alternative interhemispheric pathways. Using a similar experimental paradigm we have studied normal subjects, subjects with a complete callosal agenesis and epileptic patients with surgical callosal sections, either complete or partial. All subjects with complete callosal defects showed much lengthened interhemispheric times compared to normal controls. Virtually normal interhemispheric transmission times were found in subjects with partial callosal defects, whether anterior or posterior, suggesting a possible equipotentiality of different portions of the corpus callosum in the mediation of crossed manual responses. In both normals and acallosals there were no crossed-uncrossed differences in reaction time when responses were made unilaterally with lower limb effectors or para-axial upper limb effectors, as well as bilaterally with upper-limb proximal and para-axial effectors. Since these effectors can be controlled directly from either side of the brain via bilaterally distributed motor pathways, crossed responses using them, unlike crossed manual responses, do not require an interhemispheric integration.
MESH: Laterality-physiology; Motor-Neurons-physiology; Muscle,-Skeletal-innervation; Nerve-Fibers-physiology; Neural-Pathways-physiology; Reaction-Time-physiology; Synaptic-Transmission-physiology
MESH: *Attention-physiology; *Corpus-Callosum-physiology; *Dominance,-Cerebral-physiology; *Psychomotor-Performance-physiology
TG: Animal; Human
PT: JOURNAL-ARTICLE; REVIEW; REVIEW,-TUTORIAL
AN: 96059975
UD: 9603
TI: Association of infantile neuroaxonal dystrophy and osteopetrosis: a rare autosomal recessive disorder.
AU: Rees-H; Ang-LC; Casey-R; George-DH
AD: Department of Pathology, Vancouver General Hospital, University of British Columbia, Canada.
SO: Pediatr-Neurosurg. 1995; 22(6): 321-7
ISSN: 1016-2291
PY: 1995
LA: ENGLISH
CP: SWITZERLAND
AB: The association of neuroaxonal dystrophy and osteopetrosis is reported in 2 siblings born to non-consanguineous parents. The 1st child was diagnosed as having infantile osteopetrosis shortly after delivery. A computed tomography scan of the head revealed agenesis of the corpus callosum. She died at the age of 9 months. Post-mortem examination showed pneumonia and bony sclerosis. Neuropathological examination revealed cerebral atrophy, ventricular dilation, absence of the corpus callosum, and a small hippocampus. Neuroaxonal spheroids were found in hippocampus, basal ganglia, pons, medulla, spinal cord, cranial nerves, cerebellum, and peripheral nerves. Ultrastructural examination revealed membranous cytoplasmic bodies and electron-dense granular deposits within the neuroaxonal spheroids as well as the soma of neurons. The 2nd child was delivered at 36 weeks of gestation because of intrauterine fetal distress. The diagnosis of osteopetrosis and partial agenesis of the corpus callosum was made shortly after delivery. The child died at 1 month without an autopsy. There are rare cases reported previously with the association of neuroaxonal dystrophy and osteopetrosis. We review these cases and compare them with ours.
MESH: Axons-pathology; Brain-pathology; Brain-Diseases-diagnosis; Brain-Diseases-pathology; Corpus-Callosum-pathology; Follow-Up-Studies; Inclusion-Bodies-pathology; Infant-; Infant,-Newborn; Microscopy,-Electron; Osteopetrosis-diagnosis; Osteopetrosis-pathology; Spinal-Cord-pathology; Syndrome-
MESH: *Brain-Diseases-genetics; *Chromosome-Abnormalities-genetics; *Corpus-Callosum-abnormalities; *Genes,-Recessive; *Nerve-Degeneration-genetics; *Osteopetrosis-genetics
TG: Case-Report; Female; Human; Male
PT: JOURNAL-ARTICLE; REVIEW; REVIEW-OF-REPORTED-CASES
AN: 96076083
UD: 9602
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