A Rare Etiology of 46,XY Disorder of Sex Development and Adrenal Insufficiency: A Case of MIRAGE Syndrome Caused by Mutations in the SAMD9 Gene

Adrenal hypoplasia is a rare congenital disorder. In spite of biochemical and molecular genetic evaluation, etiology in many patients with adrenal hypoplasia is not clear. MIRAGE syndrome is a recently recognized congenital disorder characterized by myelodysplasia, infection, growth restriction, adr...

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Detalles Bibliográficos
Autores principales: Mengen, Eda, Küçükçongar Yavaş, Aynur, Uçaktürk, S. Ahmet
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Galenos Publishing 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7291401/
https://www.ncbi.nlm.nih.gov/pubmed/31208161
http://dx.doi.org/10.4274/jcrpe.galenos.2019.2019.0053

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