Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome

BackgroundHeterozygous 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 disrupte...

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Bibliographic Details
Main Authors: Jenifer P. Suntharalingham, Miho Ishida, Ignacio Del Valle, Susanne E. Stalman, Nita Solanky, Emma Wakeling, Gudrun E. Moore, John C. Achermann, Federica Buonocore
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-08-01
Series:Frontiers in Endocrinology
Subjects:
SAMD9
FGR
NGS
adrenal insufficiency
endocrinopathies
myelodysplastic syndrome (MDS)
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.953707/full

Internet

https://www.frontiersin.org/articles/10.3389/fendo.2022.953707/full

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