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
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author Katsube, Motoki
Yoshiura, Koh-ichiro
Kusumoto, Kenji
author_facet Katsube, Motoki
Yoshiura, Koh-ichiro
Kusumoto, Kenji
author_sort Katsube, Motoki
collection PubMed
description 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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spelling pubmed-47937972016-06-01 A Japanese family with popliteal pterygium syndrome Katsube, Motoki Yoshiura, Koh-ichiro Kusumoto, Kenji Case Reports Plast Surg Hand Surg Case Reports 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. Taylor & Francis 2015-04-24 /pmc/articles/PMC4793797/ /pubmed/27252970 http://dx.doi.org/10.3109/23320885.2015.1038347 Text en © 2015 The Author(s). Published by Informa Healthcare. http://creativecommons.org/licenses/by/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Katsube, Motoki
Yoshiura, Koh-ichiro
Kusumoto, Kenji
A Japanese family with popliteal pterygium syndrome
title A Japanese family with popliteal pterygium syndrome
title_full A Japanese family with popliteal pterygium syndrome
title_fullStr A Japanese family with popliteal pterygium syndrome
title_full_unstemmed A Japanese family with popliteal pterygium syndrome
title_short A Japanese family with popliteal pterygium syndrome
title_sort japanese family with popliteal pterygium syndrome
topic Case Reports
url 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
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