Lack of C20orf133 and FLRT3 mutations in 43 patients with Kabuki syndrome in Japan

Hideo Kuniba ,Hidefumi Tonoki ,Kenji Kurosawa ,Nobuhiko Okamoto ,Shingo Miura ,Toshiro Nagai ,Noriko Miyake ,Naomichi Matsumoto ,Hirofumi Ohashi ,Koh-Ichiro Yoshiura ,Akira Kinoshita ,Tadashi Matsumoto ,Mitsuko Nakashima ,Yoshimitsu Fukushima ,Hiroyuki Moriuchi ,Kenji Naritomi ,Masayoshi Tsuda ,Mitsuhiro Kato ,Tatsuro Kondoh ,Norio Niikawa

doi:10.1136/jmg.2008.058503

Abstract

Kabuki syndrome (KS, OMIM 147920), also known as Niikawa–Kuroki syndrome, is a multiple congenital anomalies/mental retardation (MCA/MR) syndrome characterised by a peculiar facial appearance, skeletal abnormalities, joint hypermobility, dermatoglyphic abnormalities,...

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