Associated Papers
A Heterozygous Novel Mutation in TFAP2A Gene Causes Atypical Branchio-Oculo-Facial Syndrome With Isolated Coloboma of Choroid: A Case Report.
Min J et al.
Frontiers in Pediatrics, 2020
32766183 (PubMed )
Supplement: Table_5.XLSX › Sheet1
Middle and inner ear malformations in mutation-proven branchio-oculo-facial (BOF) syndrome: case series and review of the literature.
Carter MT et al.
American Journal of Medical Genetics. Part A, 2012
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