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

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...

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Detalles Bibliográficos
Autores principales: Slavec, Lara, Geršak, Ksenija, Eberlinc, Andreja, Hovnik, Tinka, Lovrečić, Luca, Mlinarič-Raščan, Irena, Karas Kuželički, Nataša
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10002089/
https://www.ncbi.nlm.nih.gov/pubmed/36901693
http://dx.doi.org/10.3390/ijms24054262