Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases

PURPOSE: Mutations in the transcription factor IRF6 cause allelic autosomal dominant clefting syndromes, Van der Woude syndrome, and popliteal pterygium syndrome. We compared the distribution of IRF6 coding and splice-site mutations from 549 families with Van der Woude syndrome or popliteal pterygiu...

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Detalles Bibliográficos
Autores principales: Leslie, Elizabeth J., Standley, Jennifer, Compton, John, Bale, Sherri, Schutte, Brian C., Murray, Jeffrey C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2013
Materias:
Original Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3723330/
https://www.ncbi.nlm.nih.gov/pubmed/23154523
http://dx.doi.org/10.1038/gim.2012.141

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3723330/
https://www.ncbi.nlm.nih.gov/pubmed/23154523
http://dx.doi.org/10.1038/gim.2012.141

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