A novel homozygous missense mutation in the insulin receptor gene results in an atypical presentation of Rabson-Mendenhall syndrome

Autor: Ben Abdelaziz, Rim, Ben Chehida, Amel, Azzouz, Hatem, Boudabbous, Hela, Lascols, Olivier, Ben Turkia, Hadhami, Tebib, Néji
Zdroj: In European Journal of Medical Genetics January 2016 59(1):16-19
Databáze: ScienceDirect