A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.
Bhat
Shambhu S
SS
Rogers
R Curtis
RC
Holden
Kenton R
KR
Srivastava
Anand K
AK
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D061085:Agenesis of Corpus Callosum; D001483:Base Sequence; D001921:Brain / Q000002:abnormalities*; D041321:Chromosomes, Human, X / Q000235:genetics; D004252:DNA Mutational Analysis; D040181:Genetic Diseases, X-Linked / Q000235:genetics / Q000473:pathology; D005837:Genitalia, Male / Q000002:abnormalities*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D017384:Sequence Deletion; D014157:Transcription Factors / Q000235:genetics*
C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors