Article
A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate.
Genes - 7 Aug 2020
Sylvester Beau, Brindopke Frederick, Suzuki Akiko, Giron Melissa, Auslander Allyn, Maas Richard L, Tsai Becky, Gao Hanlin, Magee William, Cox Timothy C, Sanchez-Lara Pedro A
Abstract excerpt
Missense, nonsense, splice site and regulatory region variants in interferon regulatory factor 6 (IRF6) have been shown to contribute to both syndromic and non-syndromic forms of cleft lip and/or palate (CL/P). We report the diagnostic evaluation of a complex multigeneration family of Honduran ancestry with a pedigree structure consistent with autosomal-dominant inheritance with both incomplete penetrance and...
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