Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome

This study represents the first molecular analysis of the faciogenital dysplasia (FGD1) gene in Mexican patients with characteristic Aarskog–Scott syndrome (AAS). We present the clinical and molecular analysis of four unrelated families. This analysis identified two stop mutations not previously reported in the literature, broadening the spectrum of reported mutations.

Source: Molecular Genetics & Genomic Medicine - January 1, 2015 Category: Genetics & Stem Cells Authors: Mariana Pérez‐Coria, José J. Lugo‐Trampe, Michell Zamudio‐Osuna, Iram P. Rodríguez‐Sánchez, Angel Lugo‐Trampe, Beatriz Fuente‐Cortez, Luis D. Campos‐Acevedo, Laura E. Martínez‐de‐Villarreal Tags: Original Article Source Type: research