title: Expanded spectrum of oculo-auriculo-vertebral spectrum with imperforate anus in a male patient who is negative for SALL1 mutations.
authors.affiliation: Department of Pediatrics Center for Craniofacial Anomalies, University of California, San Francisco, California, USA.
authors.forename: Anne M
authors.initials: AM
authors.lastname: Slavotinek
authors.forename: Karin
authors.initials: K
authors.lastname: Vargervik
mesh_terms: D000328:Adult; D001006:Anus, Imperforate / Q000150:complications*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006053:Goldenhar Syndrome / Q000150:complications / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D011247:Pregnancy; D011859:Radiography; D013131:Spine / Q000000981:diagnostic imaging; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C104146:SALL1 protein, human; D014157:Transcription Factors