A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report
Author:
Publisher
Frontiers Media SA
Subject
Pediatrics, Perinatology, and Child Health
Reference24 articles.
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3. TFAP2A mutations result in branchio-oculo-facial syndrome;Milunsky;Am J Hum Genet.,2008
4. Confirmation of TFAP2A gene involvement in branchio-oculo-facial syndrome (BOFSS) and report of temporal bone anomalies;Stoetzel;Am J Med Genet A.,2009
5. A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A;Meshcheryakova;Ann Hum Genet.,2015
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