Article
An Iranian family with azoospermia and premature ovarian insufficiency segregating NR5A1 mutation.
Climacteric : the journal of the International Menopause Society - 1 Jun 2014
Safari S, Zare-Abdollahi D, Mirfakhraie R, Ghafouri-Fard S, Pouresmaeili F, Movafagh A, Omrani M D
Abstract excerpt
In brief, we report an Iranian family with a history of both azoospermia and premature ovarian insufficiency with the same heterozygote mutation in the NR5A1 gene that can be transmitted. As far as we know, this is the first observation that a common mutation in NR5A1 can cause these above-mentioned phenotypes in a family.
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