MIRAGE Syndrome: Phenotypic Rescue by Somatic Mutation and Selection.
Sign Up to like & getrecommendations! Published in 2019 at "Trends in molecular medicine"
DOI: 10.1016/j.molmed.2019.08.008
Abstract: MIRAGE syndrome, a multisystem disorder, results from heterozygous gain-of-function mutations in SAMD9, which encodes a growth suppressor, located on chromosome 7. Somatic changes involving loss-of-function mutations of the altered SAMD9 allele or loss of chromosome… read more here.
Keywords: somatic mutation; mutation selection; mirage syndrome; phenotypic ... See more keywords
Generation of human induced pluripotent stem cell lines from 2 patients with MIRAGE syndrome.
Sign Up to like & getrecommendations! Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102417
Abstract: MIRAGE syndrome is a multisystem disorder caused by mutations in SAMD9 (sterile α motif domain-containing protein 9) with a high mortality in the first decade of life. We generated 2 human induced pluripotent stem cell… read more here.
Keywords: mirage syndrome; cell lines; human induced; stem cell ... See more keywords
Lacrimal Gland Hypoplasia and Corneal Anesthesia in MIRAGE Syndrome: A Case Report and Literature Review.
Sign Up to like & getrecommendations! Published in 2021 at "Cornea"
DOI: 10.1097/ico.0000000000002900
Abstract: PURPOSE The purpose of this report was to describe the ocular findings in Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy (MIRAGE) syndrome, a multisystem congenital disorder. METHODS This was a case… read more here.
Keywords: corneal; mirage syndrome; case; case report ... See more keywords
A Small-for-Gestational-Age Infant with MIRAGE Syndrome Who Developed Heat Stroke and Rhabdomyolysis due to Severe Temperature Instability.
Sign Up to like & getrecommendations! Published in 2023 at "Neonatology"
DOI: 10.1159/000529762
Abstract: MIRAGE syndrome is characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. This report describes heat stroke and rhabdomyolysis caused by anhidrosis as a symptom of MIRAGE syndrome in a small-for-gestational-age… read more here.
Keywords: temperature; mirage syndrome; temperature instability; heat stroke ... See more keywords
SUN-268 Severe Infantile Insulin Resistance: A Novel Feature of MIRAGE Syndrome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2019-sun-268
Abstract: Abstract 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)… read more here.
Keywords: mirage syndrome; insulin resistance; severe insulin; insulin ... See more keywords
Emerging phenotypes linked to variants in SAMD9 and MIRAGE syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Endocrinology"
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