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A Japanese family with popliteal pterygium syndrome
Motoki Katsube1, Koh-Ichiro Yoshiura2, Kenji Kusumoto1
1Department of Plastic and Reconstructive Surgery, Kansai Medical University, Hirakata, Japan.
Abstract:
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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