ABSTRACT

Primary Ovarian Insufficiency and Azospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation

Al-Agha AE, Ahmed IA, Nuebel E, Moriwaki M, Moore B, Peacock KA, Mosbruger T, Neklason DW, Jorde LB, Yandell M, Welt CK

J Clin Endocrinol Metab. 2018 Feb 1;103(2):555-563. doi: 10.1210/jc.2017-01966

PMID: 29240891