Ontology highlight
ABSTRACT:
SUBMITTER: Milunsky JM
PROVIDER: S-EPMC2427243 | biostudies-literature | 2008 May
REPOSITORIES: biostudies-literature
American journal of human genetics 20080501 5
Branchio-oculo-facial syndrome (BOFS) is a rare autosomal-dominant cleft palate-craniofacial disorder with variable expressivity. The major features include cutaneous anomalies (cervical, infra- and/or supra-auricular defects, often with dermal thymus), ocular anomalies, characteristic facial appearance (malformed pinnae, oral clefts), and, less commonly, renal and ectodermal (dental and hair) anomalies. The molecular basis for this disorder is heretofore unknown. We detected a 3.2 Mb deletion b ...[more]