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Results: 3

1.

A novel nonsense mutation in HSD17B3 gene in a Tunisian patient with sexual ambiguity.

Ben Rhouma B, Belguith N, Mnif MF, Kamoun T, Charfi N, Kamoun M, Abdelhedi F, Hachicha M, Kamoun H, Abid M, Fakhfakh F.

J Sex Med. 2013 Oct;10(10):2586-9. doi: 10.1111/j.1743-6109.2012.02763.x. Epub 2012 May 17.

PMID:
22594312
[PubMed - indexed for MEDLINE]
2.

17-β-hydroxysteroid dehydrogenase type 3 deficiency in three adult Iranian siblings.

Omrani MD, Adamovic T, Grandell U, Saleh-Gargari S, Nordenskjöld A.

Sex Dev. 2011;5(6):273-6. doi: 10.1159/000335006. Epub 2011 Dec 30.

PMID:
22212252
[PubMed - indexed for MEDLINE]
3.

Primary amenorrhea in a young Polish woman with complete androgen insensitivity syndrome and Sertoli-Leydig cell tumor: identification of a new androgen receptor gene mutation and evidence of aromatase hyperactivity and apoptosis dysregulation within the tumor.

Jarzabek K, Philibert P, Koda M, Sulkowski S, Kotula-Balak M, Bilinska B, Kottler ML, Wolczynski S, Sultan C.

Gynecol Endocrinol. 2007 Sep;23(9):499-504.

PMID:
17852420
[PubMed - indexed for MEDLINE]

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