Article
Mutations in the FGFR2 gene in Mexican patients with Apert syndrome.
Genetics and molecular research : GMR - 27 Mar 2015
Ibarra-Arce A, Ortiz de Zárate-Alarcón G, Flores-Peña L G, Martínez-Hernández F, Romero-Valdovinos M, Olivo-Díaz A
Abstract excerpt
Apert syndrome (AS) is a frequent acrocephalosyndactyly, with autosomal dominant inheritance. AS has been associated with mutations in fibroblast growth factor receptor 2 (FGFR2), and approximately 99% of cases show 2 of the frequent mutations located in exon IIIa (Ser252Trp or Pro253Arg). The purpose of the present study was to describe the mutations in exon IIIa of FGFR2 in Mexican AS patients and the...
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