title: A novel in-frame deletion in ARX is associated with lissencephaly with absent corpus callosum and hypoplastic genitalia.
authors.forename: Shambhu S
authors.initials: SS
authors.lastname: Bhat
authors.forename: R Curtis
authors.initials: RC
authors.lastname: Rogers
authors.forename: Kenton R
authors.initials: KR
authors.lastname: Holden
authors.forename: Anand K
authors.initials: AK
authors.lastname: Srivastava
mesh_terms: 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*
chemical_list: C469264:ARX protein, human; D018398:Homeodomain Proteins; D014157:Transcription Factors