Article
Muenke syndrome (FGFR3-related craniosynostosis): expansion of the phenotype and review of the literature.
American journal of medical genetics. Part A - 15 Dec 2007
Doherty Emily S, Lacbawan Felicitas, Hadley Donald W, Brewer Carmen, Zalewski Christopher, Kim H Jeff, Solomon Beth, Rosenbaum Kenneth, Domingo Demetrio L, Hart Thomas C, Brooks Brian P, Immken Ladonna, Lowry R Brian, Kimonis Virginia, Shanske Alan L, Jehee Fernanda Sarquis, Bueno Maria Rita Passos, Knightly Carol, McDonald-McGinn Donna, Zackai Elaine H, Muenke Maximilian
Abstract excerpt
Muenke syndrome is an autosomal dominant disorder characterized by coronal suture craniosynostosis, hearing loss, developmental delay, carpal and tarsal fusions, and the presence of the Pro250Arg mutation in the FGFR3 gene. Reduced penetrance and variable expressivity contribute to the wide spectrum of clinical findings in Muenke syndrome. To better define the clinical features of this syndrome, we initiated a...
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