Non‐random distribution of deleterious mutations in the DNA and protein‐binding domains of IRF6 are associated with Van Der Woude syndrome

Abstract Background The development of the face occurs during the early days of intrauterine life by the formation of facial processes from the first Pharyngeal arch. Derangement in these well‐organized fusion events results in Orofacial clefts (OFC). Van der Woude syndrome (VWS) is one of the most...

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Main Authors:	Azeez A. Alade, Carmen J. Buxo‐Martinez, Peter A. Mossey, Lord J.J. Gowans, Mekonen A. Eshete, Wasiu L. Adeyemo, Thirona Naicker, Waheed A. Awotoye, Chinyere Adeleke, Tamara Busch, Ada M. Toraño, Carolina A. Bello, Mairim Soto, Marilyn Soto, Ricardo Ledesma, Myrellis Marquez, Jose F. Cordero, Lydia M. Lopez‐Del Valle, Maria I. Salcedo, Natalio Debs, Mary Li, Aline Petrin, Joy Olotu, Colleen Aldous, James Olutayo, Modupe O. Ogunlewe, Fekir Abate, Taye Hailu, Ibrahim Muhammed, Paul Gravem, Milliard Deribew, Mulualem Gesses, Mohaned Hassan, John Pape, Oluwole A. Adeniyan, Solomon Obiri‐Yeboah, Fareed K.N. Arthur, Alexander A. Oti, Olubukola Olatosi, Sara E. Miller, Peter Donkor, Martine M. Dunnwald, Mary L. Marazita, Adebowale A. Adeyemo, Jeffrey C. Murray, Azeez Butali
Format:	Artigo
Language:	Inglês
Published:	Wiley 2020-08-01
Series:	Molecular Genetics & Genomic Medicine
Subjects:	Combined Annotation Dependent Depletion score interferon regulatory factor 6 orofacial cleft Popliteal pterygium syndrome Van der Woude syndrome
Online Access:	https://doi.org/10.1002/mgg3.1355
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