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Article

A Comprehensive Genetic Analysis of Slovenian Families with Multiple Cases of Orofacial Clefts Reveals Novel Variants in the Genes IRF6, GRHL3, and TBX22.

International journal of molecular sciences - 21 Feb 2023

Slavec Lara, Geršak Ksenija, Eberlinc Andreja, Hovnik Tinka, Lovrečić Luca, Mlinarič-Raščan Irena, Karas Kuželički Nataša

Abstract excerpt

Although the aetiology of non-syndromic orofacial clefts (nsOFCs) is usually multifactorial, syndromic OFCs (syOFCs) are often caused by single mutations in known genes. Some syndromes, e.g., Van der Woude syndrome (VWS1; VWS2) and X-linked cleft palate with or without ankyloglossia (CPX), show only minor clinical signs in addition to OFC and are sometimes difficult to differentiate from nsOFCs. We recruited 34...

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PMID: 36901693
DOI: 10.3390/ijms24054262
PMCID: PMC10002089

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