title: A novel PITX2 mutation causing iris hypoplasia.
abstract: Iris hypoplasia (IH) is rare autosomal dominant disorder characterized by a poorly developed iris stroma and malformations of the eyes and umbilicus. This disorder is caused by mutation of the paired-like homeodomain 2 (PITX2) gene. Here, we describe a novel PITX2 mutation (c.205C>T) in an IH family presenting with very mild eye features but with tooth agenesis as the most obvious clinical feature.
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University School of Dentistry, Nagoya, Japan; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan; Aichi-Human Service Center, Department of Perinatology, Institute for Developmental Research, Kasugai, Japan.
authors.forename: Masashi
authors.initials: M
authors.lastname: Kimura
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University School of Dentistry, Nagoya, Japan; Aichi-Human Service Center, Department of Perinatology, Institute for Developmental Research, Kasugai, Japan.
authors.forename: Yoshihito
authors.initials: Y
authors.lastname: Tokita
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University School of Dentistry, Nagoya, Japan; Department of Oral and Maxillofacial Surgery, Toyota Memorial Hospital, Toyota, Japan.
authors.forename: Junichiro
authors.initials: J
authors.lastname: Machida
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University School of Dentistry, Nagoya, Japan; Aichi-Human Service Center, Department of Perinatology, Institute for Developmental Research, Kasugai, Japan.
authors.forename: Akio
authors.initials: A
authors.lastname: Shibata
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University School of Dentistry, Nagoya, Japan; Aichi-Human Service Center, Department of Perinatology, Institute for Developmental Research, Kasugai, Japan.
authors.forename: Tadashi
authors.initials: T
authors.lastname: Tatematsu
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors.forename: Yoshinori
authors.initials: Y
authors.lastname: Tsurusaki
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Miyake
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors.forename: Hirotomo
authors.initials: H
authors.lastname: Saitsu
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University School of Dentistry , Nagoya, Japan.
authors.forename: Hitoshi
authors.initials: H
authors.lastname: Miyachi
authors.affiliation: Department of Maxillofacial Surgery, Aichi-Gakuin University School of Dentistry , Nagoya, Japan.
authors.forename: Kazuo
authors.initials: K
authors.lastname: Shimozato
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine , Yokohama, Japan.
authors.forename: Mitsuko
authors.initials: M
authors.lastname: Nakashima