title: De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literature review.
authors: Department of Genetic Medicine, Directorate of Genetics and Molecular Pathology, SA Pathology at Women's and Children's Hospital, and School of Paediatrics and Reproductive Health, The University of Adelaide, North Adelaide, South Australia, Australia.
authors: Alexandra
authors: A
authors: Jolley
authors: Mark
authors: M
authors: Corbett
authors: Lesley
authors: L
authors: McGregor
authors: Wendy
authors: W
authors: Waters
authors: Susan
authors: S
authors: Brown
authors: Jillian
authors: J
authors: Nicholl
authors: Sui
authors: S
authors: Yu
mesh_terms: D000293:Adolescent; D001321:Autistic Disorder / Q000235:genetics*; D001483:Base Sequence; D002872:Chromosome Deletion; D007446:Chromosome Inversion; D055028:Comparative Genomic Hybridization; D003598:Cytoskeletal Proteins; D002658:Developmental Disabilities / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D011506:Proteins / Q000235:genetics*; D014157:Transcription Factors; D014178:Translocation, Genetic
chemical_list: C554283:AUTS2 protein, human; D003598:Cytoskeletal Proteins; D011506:Proteins; D014157:Transcription Factors