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Genetics of congenital adrenal hyperplasia
Best Practice & Research Clinical Endocrinology & Metabolism, 06/17/09
Krone N et al. - Inactivating POR gene mutations are the cause of CAH manifesting with apparent combined CYP17A1–CYP21A2 deficiency. P450 oxidoreductase deficiency (ORD) has a complex phenotype including two unique features not observed in any other CAH variant: skeletal malformations and severe genital ambiguity in both sexes.
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The pituitary-adrenal axis in adult thalassaemic patients
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Adrenal insufficiency in acute coronary syndrome
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Today in Basic Science/Genetics...keeping you current
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Cytotoxic T lymphocyte antigen-4 Ala17 polymorphism is a genetic marker of autoimmune adrenal insufficiency: Italian association study and meta-analysis of European studies
European Journal of Endocrinology, 11/05/09
PTH and IL21R May Underlie Variation of Femoral Neck Bone Mineral Density as Revealed by a Genome-Wide Association Study
Journal of Bone and Mineral Research, 11/03/09
Hip Geometry Variation is Associated With Bone Mineralization Pathway Gene Variants: The Framingham Study
Journal of Bone and Mineral Research, 11/13/09
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