A Novel Van der Woude Syndrome-Causing IRF6 Variant Is Subject to Incomplete Non-sense-Mediated mRNA Decay Affecting the Phenotype of Keratinocytes

Van der Woude syndrome (VWS) is a genetic syndrome that leads to typical phenotypic traits, including lower lip pits and cleft lip/palate (CLP). The majority of VWS-affected patients harbor a pathogenic variant in the gene encoding for the transcription factor interferon regulatory factor 6 (IRF6),...

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Detalles Bibliográficos
Autores principales: Degen, Martin, Girousi, Eleftheria, Feldmann, Julia, Parisi, Ludovica, La Scala, Giorgio C., Schnyder, Isabelle, Schaller, André, Katsaros, Christos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Cell and Developmental Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552806/
https://www.ncbi.nlm.nih.gov/pubmed/33117810
http://dx.doi.org/10.3389/fcell.2020.583115

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7552806/
https://www.ncbi.nlm.nih.gov/pubmed/33117810
http://dx.doi.org/10.3389/fcell.2020.583115

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