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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...
Αποθηκεύτηκε σε:
| Τόπος έκδοσης: | Genes (Basel) |
|---|---|
| Κύριοι συγγραφείς: | , , , , , , , , , , |
| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
MDPI
2020
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| Θέματα: | |
| Διαθέσιμο Online: | 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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