Exonic Deletions in AUTS2 Cause a Syndromic Form of Intellectual Disability and Suggest a Critical Role for the C Terminus - Beunders, Gea; Voorhoeve, Els; Golzio, Christelle; Pardo, Luba M.; Rosenfeld, Jill A.; Talkowski, Michael E.; Simonic, Ingrid; Lionel, Anath C.; Vergult, Sarah; Pyatt, Robert E.; van de Kamp, Jiddeke; Nieuwint, Aggie; et al. (American journal of human genetics, 2013)
Keywords: Adolescent; Adult; Amino Acid Sequence; Animals; Base Sequence; Brain; Child; Child, Preschool; Cytoskeletal Proteins; Danio rerio; Exons - genetics; Facies; Female; Gene expression; Genetic Predisposition to Disease; Genetics & genetic processes; Genomics; Génétique & processus génétiques; Human subjects; Humans; Infant; Intellectual Disability - genetics; Learning disabilities; Life sciences; Male; Molecular Sequence Data; Phenotype; Protein Isoforms - chemistry; Protein Isoforms - genetics; Protein Isoforms/chemistry/genetics; Proteins - chemistry; Proteins - genetics; Proteins/chemistry/genetics; Sciences du vivant; Sequence Deletion - genetics; Suppression, Genetic; Syndrome; Transcription Factors; Young Adult; Zebrafish - embryology; Zebrafish - genetics; Zebrafish Proteins - chemistry; Zebrafish Proteins - genetics; Zebrafish Proteins/chemistry/genetics; Zebrafish/embryology/genetics