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...

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Detalles Bibliográficos
Autores principales: Khoury, Khalil, Barbar, Elie, Ainmelk, Youssef, Ouellet, Annie, Lavigne, Pierre, LeHoux, Jean-Guy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2016
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5116571/
https://www.ncbi.nlm.nih.gov/pubmed/27917104
http://dx.doi.org/10.3389/fnins.2016.00527

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