Article
Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association - 1 Mar 2006
Freitas Erika Cristina Lopes Burrone de, Nascimento Sandra Regina Dantas, de Mello Maricilda Palandi, Gil-da-Silva-Lopes Vera Lúcia
Abstract excerpt
OBJECTIVE: To describe the first report on a three-generation family presenting typical features of Saethre-Chotzen syndrome, in which the Q289P mutation in the FGFR2 gene was detected. DESIGN: Dysmorphological evaluation was performed by a clinical geneticist. Direct sequencing of the polymerase chain reaction-amplified coding region of TWIST and screening for the P250R mutation in the FGFR3 gene were performed....
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