title: A Japanese family with popliteal pterygium syndrome.
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.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Kansai Medical University, Hirakata, Japan.
authors.forename: Motoki
authors.initials: M
authors.lastname: Katsube
authors.affiliation: Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
authors.forename: Koh-Ichiro
authors.initials: K
authors.lastname: Yoshiura
authors.affiliation: Department of Plastic and Reconstructive Surgery, Kansai Medical University, Hirakata, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Kusumoto
keywords: Cleft lip and palate; IRF6; popliteal pterygium syndrome; van der Woude syndrome