Open AccessPrimary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation
Author(s) -
Abdulmoein Eid Al-Agha,
Ihab Abdulhamed Ahmed,
Esther Nuebel,
Mika Moriwaki,
Barry Moore,
Katherine A Peacock,
Tim Mosbruger,
Deborah W. Neklason,
Lynn B. Jorde,
Mark Yandell,
Corrine K. Welt
Publication year - 2017
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/jc.2017-01966
Subject(s) - missense mutation , biology , genetics , azoospermia , mutation , mitochondrial dna , exon , gene , infertility , pregnancy
The etiology of primary ovarian insufficiency (POI) remains unknown in most cases.
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