A Complex Intrachromosomal Rearrangement Disrupting <i>IRF6</i> in a Family with Popliteal Pterygium and Van der Woude Syndromes

A Complex Intrachromosomal Rearrangement Disrupting <i>IRF6</i> in a Family with Popliteal Pterygium and Van der Woude Syndromes

Clefts of the lip and/or palate (CL/P) are considered the most common form of congenital anomalies occurring either in isolation or in association with other clinical features. Van der woude syndrome (VWS) is associated with about 2% of all CL/P cases and is further characterized by having lower lip...

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Bibliographic Details
Main Authors: Alya A. Al-Kurbi, Elbay Aliyev, Sana AlSa’afin, Waleed Aamer, Sasirekha Palaniswamy, Aljazi Al-Maraghi, Houda Kilani, Ammira Al-Shabeeb Akil, Mitchell A. Stotland, Khalid A. Fakhro
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Genes
Subjects:
popliteal pterygium syndrome
1q32
<i>IRF6</i> gene
Cleft palate
cleft lip
syndactyly
Online Access:https://www.mdpi.com/2073-4425/14/4/849

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