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SUN-268 Severe Infantile Insulin Resistance: A Novel Feature of MIRAGE Syndrome

Background MIRAGE syndrome is a rare multisystem disorder characterized by myelodysplasia, infection, growth restriction, adrenal hypoplasia, genital phenotypes, and enteropathy. The syndrome is associated with mutations in Sterile Alpha Motif Domain Containing 9 (SAMD9) gene, encoding an endosome f...

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Detalles Bibliográficos
Autores principales: Sigal, Winnie, Williams, Cheyenne, Joshi, Apoorva, Stanescu, Diana, Hatch-Stein, Jacquelyn, Pinney, Sara
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Endocrine Society 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552692/
http://dx.doi.org/10.1210/js.2019-SUN-268