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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...

पूर्ण विवरण

में बचाया:
ग्रंथसूची विवरण
में प्रकाशित:Front Neurosci
मुख्य लेखकों: Khoury, Khalil, Barbar, Elie, Ainmelk, Youssef, Ouellet, Annie, Lavigne, Pierre, LeHoux, Jean-Guy
स्वरूप: Artigo
भाषा:Inglês
प्रकाशित: Frontiers Media S.A. 2016
विषय:
ऑनलाइन पहुंच: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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