Article
Mutation analysis of FGFR1-3 in 11 Japanese patients with syndromic craniosynostoses.
American journal of medical genetics. Part A - 1 Jan 2017
Ohishi Akira, Nishimura Gen, Kato Fumiko, Ono Hiroyuki, Maruwaka Kaori, Ago Mako, Suzumura Hiroshi, Hirose Etsuko, Uchida Yuki, Fukami Maki, Ogata Tsutomu
Abstract excerpt
Syndromic craniosynostoses usually occur as single gene disorders. In this study, we analyzed FGFR1-3 genes in four patients with Crouzon syndrome (CS), four patients with Pfeiffer syndrome type 2 (PS-2), one patient with Jackson-Weiss syndrome (JWS), and two patients (sisters) with Muenke syndrome (MS). FGFR2 and FGFR3 mutations were identified in 10 of the 11 patients. Notably, we found a novel FGFR2...
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