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Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P Mutation

Objective: Review the impact of StAR (STARD1) mutations on steroidogenesis and fertility in LCAH patients. Examine the endocrine mechanisms underlying the pathology of the disorder and the appropriate therapy for promoting fertility and pregnancies. Design: Published data in the literature and a det...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Front Neurosci
Prif Awduron: Khoury, Khalil, Barbar, Elie, Ainmelk, Youssef, Ouellet, Annie, Lavigne, Pierre, LeHoux, Jean-Guy
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Frontiers Media S.A. 2016
Pynciau:
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5116571/
https://ncbi.nlm.nih.gov/pubmed/27917104
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fnins.2016.00527
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