A Synonymous Exonic Splice Silencer Variant in IRF6 as a Novel and Cryptic Cause of Non-Syndromic Cleft Lip and Palate

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 ances...

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Publicado en:Genes (Basel)
Autores principales: 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.
Formato: Artigo
Lenguaje:Inglês
Publicado: MDPI 2020
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7465030/
https://ncbi.nlm.nih.gov/pubmed/32784565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes11080903
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