Article
Nationwide survey of Baller‑Gerold syndrome in Japanese population.
Molecular medicine reports - 1 May 2017
Kaneko Hideo, Izumi Rie, Oda Hirotsugu, Ohara Osamu, Sameshima Kiyoko, Ohnishi Hidenori, Fukao Toshiyuki, Funato Michinori
Abstract excerpt
Baller-Gerold syndrome (BGS) is a rare autosomal genetic disorder characterized by radial aplasia/hypoplasia and craniosynostosis. The causative gene for BGS encodes RECQL4, which belongs to the RecQ helicase family. To understand BGS patients in Japan, a nationwide survey was conducted, which identified 2 families and 3 patients affected by the syndrome. All the three patients showed radial defects and...
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