A Complex Intrachromosomal Rearrangement Disrupting IRF6 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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Detalles Bibliográficos
Autores principales: Al-Kurbi, Alya A., Aliyev, Elbay, AlSa’afin, Sana, Aamer, Waleed, Palaniswamy, Sasirekha, Al-Maraghi, Aljazi, Kilani, Houda, Akil, Ammira Al-Shabeeb, Stotland, Mitchell A., Fakhro, Khalid A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10137688/
https://www.ncbi.nlm.nih.gov/pubmed/37107607
http://dx.doi.org/10.3390/genes14040849

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