A Japanese family with popliteal pterygium syndrome

We investigated a family in which the mother and a daughter suffered from popliteal pterygium syndrome (PPS). Mutation in the interferon regulatory factor 6 (IRF6) gene was detected in the mother and daughter. This is the second report of a family case with mutation in the IRF6 gene in Japanese pati...

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Detalles Bibliográficos
Autores principales: Katsube, Motoki, Yoshiura, Koh-ichiro, Kusumoto, Kenji
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Taylor & Francis 2015
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4793797/
https://www.ncbi.nlm.nih.gov/pubmed/27252970
http://dx.doi.org/10.3109/23320885.2015.1038347
Descripción
Sumario:We investigated a family in which the mother and a daughter suffered from popliteal pterygium syndrome (PPS). Mutation in the interferon regulatory factor 6 (IRF6) gene was detected in the mother and daughter. This is the second report of a family case with mutation in the IRF6 gene in Japanese patients with PPS.

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