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Article

Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome.

Frontiers in endocrinology - 1 Jan 2022

Suntharalingham Jenifer P, Ishida Miho, Del Valle Ignacio, Stalman Susanne E, Solanky Nita, Wakeling Emma, Moore Gudrun E, Achermann John C, Buonocore Federica

Abstract excerpt

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 disrupted placental development, poor post-natal growth and endocrine features. Increasingly, milder phenotypic features...

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Share to Intracellular Signaling Peptides and Proteins
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Chromosomes, Human, Pair 7

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Source

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Identifiers

PMID: 36060959
DOI: 10.3389/fendo.2022.953707
PMCID: PMC9433874

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