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Variants implicated in cortisone reductase deficiency do not contribute to susceptibility to common forms of polycystic ovary syndrome.

Abstract:

OBJECTIVE: There are close phenotypic similarities between cortisone reductase deficiency (CRD), a rare abnormality of cortisone metabolism, and polycystic ovary syndrome (PCOS). As there is evidence that CRD results from digenic mutations involving the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 (HSD11B1) and hexose-6-phosphate dehydrogenase (H6PD), we sought to establish whether CRD-associated variants in these genes, individually or in combination, influence susceptibility t...

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Publication status:
Published

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Authors


Powell, BL More by this author
Conway, GS More by this author
Stewart, PM More by this author
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Journal:
Clinical endocrinology
Volume:
65
Issue:
1
Pages:
64-70
Publication date:
2006-07-05
DOI:
EISSN:
1365-2265
ISSN:
0300-0664
URN:
uuid:4645ed26-0936-4eec-80a4-a3564450e98d
Source identifiers:
16466
Local pid:
pubs:16466

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