Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome
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DOI: 10.3389/fendo.2022.953707
Abstract: 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… read more here.
Keywords: restriction; growth; variants samd9; mirage syndrome ... See more keywords