Compound heterozygous mutations in the luteinizing hormone receptor signal peptide causing 46,XY disorder of sex development.
Authors: Iulia Potorac, Ashutosh Trehan, Kamila Szymańska, Julie Fudvoye, Albert Thiry, Ilpo Huhtaniemi, Adrian F. Daly, Albert Beckers, Anne-Simone Parent, Adolfo Rivero-Müller.
Published in: European Journal of Endocrinology
Publication type: article
Subject areas: Biochemistry, Genetics and Molecular Biology; Medicine
SJR best quartile: Q1