Condition: Branchio-Oculo-Facial Syndrome


rs121909574 in TFAP2A-AS2;TFAP2A gene and Branchio-Oculo-Facial Syndrome PMID 18423521 2008 TFAP2A mutations result in branchio-oculo-facial syndrome.

PMID 25590586 2015 A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.

rs121909575 in TFAP2A;TFAP2A-AS2 gene and Branchio-Oculo-Facial Syndrome PMID 18423521 2008 TFAP2A mutations result in branchio-oculo-facial syndrome.