Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

BACKGROUND: Heterozygous de novo variants in SAMD9 cause MIRAGE syndrome, a complex multisystem disorder involving Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, and Enteropathy. The range of additional clinical associations is expanding and includes disrup...

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Detalles Bibliográficos
Autores principales: Suntharalingham, Jenifer P., Ishida, Miho, Del Valle, Ignacio, Stalman, Susanne E., Solanky, Nita, Wakeling, Emma, Moore, Gudrun E., Achermann, John C., Buonocore, Federica
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9433874/
https://www.ncbi.nlm.nih.gov/pubmed/36060959
http://dx.doi.org/10.3389/fendo.2022.953707

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