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

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

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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Bibliographic Details
Main Authors: Lara Slavec, Ksenija Geršak, Andreja Eberlinc, Tinka Hovnik, Luca Lovrečić, Irena Mlinarič-Raščan, Nataša Karas Kuželički
Format: Article
Language:English
Published: MDPI AG 2023-02-01
Series:International Journal of Molecular Sciences
Subjects:
genetics
family study
non-syndromic orofacial cleft
Van der Woude syndrome
X-linked cleft palate with or without ankyloglossia
<i>IRF6</i>
Online Access:https://www.mdpi.com/1422-0067/24/5/4262

Internet

https://www.mdpi.com/1422-0067/24/5/4262

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