Article
Genotype-Phenotype Relationship in Patients and Relatives with SHOX Region Anomalies in the French Population.
Hormone research in paediatrics - 1 Jan 2016
Auger Julie, Baptiste Amandine, Benabbad Imane, Thierry Gaëlle, Costa Jean-Marc, Amouyal Mélanie, Kottler Marie-Laure, Leheup Bruno, Touraine Renaud, Schmitt Sébastien, Lebrun Marine, Cormier Daire Valérie, Bonnefont Jean-Paul, de Roux Nicolas, Elie Caroline, Rosilio Myriam
Abstract excerpt
BACKGROUND: The aim of our study was to describe a large population with anomalies involving the SHOX region, responsible for idiopathic short stature and Léri-Weill dyschondrosteosis (LWD), and to identify a possible genotype/phenotype correlation. METHODS: We performed a retrospective multicenter study on French subjects with a SHOX region anomaly diagnosed by multiplex ligation-dependent probe amplification or...
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