Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12

Pediatric Neurology

Volumn 46, Issue 6, 2012, Pages 363-368

  Halevy, Ayelet ^a,b   Basel Vanagaite, Lina ^b,c   Shuper, Avinoam ^a,b   Helman, Shlomit ^c   Har Zahav, Adi ^b   Birk, Efrat ^c   Maya, Idit ^b,c   Kornreich, Liora ^a,b   Inbar, Dov ^a,b   Nürnberg, Gudrun ^d,e   Nürnberg, Peter ^d,e   Steinberg, Tamar ^a,b   Straussberg, Rachel ^a,b  

^a SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c RABIN MEDICAL CENTER   (Israel)

^d UNIVERSITY OF COLOGNE   (Germany)

^e UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

INITIATION FACTOR 3; INITIATION FACTOR 3H; PHOSPHOPROTEIN; RAD21 PROTEIN; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TAF2; UNCLASSIFIED DRUG;

AORTA VALVE STENOSIS; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOSOMAL RECESSIVE INHERITANCE; BRAIN VENTRICLE PERITONEUM SHUNT; CASE REPORT; CHILD; CHROMOSOME 8Q23.2-Q24.12; CHROMOSOME ABERRATION; CORPUS CALLOSUM AGENESIS; DISEASE SEVERITY; DIVERGENT STRABISMUS; ECHOCARDIOGRAPHY; FAMILY; FEMALE; FETUS ECHOGRAPHY; FOLLOW UP; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; HISTOPATHOLOGY; HUMAN; HYDROCEPHALUS; INTELLECTUAL IMPAIRMENT; LABORATORY TEST; MALE; MICROCEPHALY; MYELINATION; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; PYRAMIDAL SIGN; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTICITY; STRABISMUS; STRABISMUS SURGERY; THIN CORPUS CALLOSUM SYNDROME; TRANSLATION INITIATION;

CHILD; CHILD, PRESCHOOL; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 8; CORPUS CALLOSUM; FEMALE; HOMOZYGOTE; HUMANS; MALE; MICROCEPHALY; PEDIGREE; SYNDROME;

EID: 84861623472     PISSN: 08878994     EISSN: 18735150     Source Type: Journal    
DOI: 10.1016/j.pediatrneurol.2012.03.014     Document Type: Article

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