Article
Genotype-phenotype analysis of the branchio-oculo-facial syndrome.
American journal of medical genetics. Part A - 1 Jan 2011
Milunsky Jeff M, Maher Tom M, Zhao Geping, Wang Zhenyuan, Mulliken John B, Chitayat David, Clemens Michele, Stalker Heather J, Bauer Mislen, Burch Michele, Chénier Sébastien, Cunningham Michael L, Drack Arlene V, Janssens Sandra, Karlea Audrey, Klatt Regan, Kini Usha, Klein Ophir, Lachmeijer Augusta M, Megarbane Andre, Mendelsohn Nancy J, Meschino Wendy S, Mortier Geert R, Parkash Sandhya, Ray C Renai, Roberts Angharad, Roberts Amy, Reardon Willie, Schnur Rhonda E, Smith Rosemarie, Splitt Miranda, Tezcan Kamer, Whiteford Margo L, Wong Derek A, Zori Roberto, Lin Angela E
Abstract excerpt
Branchio-oculo-facial syndrome (BOFS; OMIM#113620) is a rare autosomal dominant craniofacial disorder with variable expression. Major features include cutaneous and ocular abnormalities, characteristic facies, renal, ectodermal, and temporal bone anomalies. Having determined that mutations involving TFAP2A result in BOFS, we studied a total of 30 families (41 affected individuals); 26/30 (87%) fulfilled our...
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