Diabetes Mellitus in Prader-Willi Syndrome: Natural History during the Transition from Childhood to Adulthood in a Cohort of 39 Patients

por Alice Clerc, Muriel Coupaye, Héléna Mosbah, Graziella Pinto, Virginie Laurier, Fabien Mourre, Christine Merrien, Gwenaëlle Diene, Christine Poitou, Maithé Tauber
Publicado 2021

Screening of MAMLD1 mutations in 70 children with 46,XY DSD: identification and functional analysis of two new mutations.

por Nicolas Kalfa, Maki Fukami, Pascal Philibert, Francoise Audran, Catherine Pienkowski, Jacques Weill, Graziella Pinto, Sylvie Manouvrier, Michel Polak, Totsumo Ogata, Charles Sultan
Publicado 2012