MIRAGE syndrome caused by a novel missense variant (p.Ala1479Ser) in the SAMD9 gene View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2020-03-05

AUTHORS

Shinsuke Onuma, Tamaki Wada, Ryosuke Araki, Kazuko Wada, Kanako Tanase-Nakao, Satoshi Narumi, Miho Fukui, Yasuko Shoji, Yuri Etani, Shinobu Ida, Masanobu Kawai

ABSTRACT

MIRAGE syndrome is a recently identified disorder characterized by myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy. It is caused by a gain-of-function variant in the SAMD9 gene, but there is limited knowledge regarding the genotype–phenotype correlation. We herein report a Japanese patient with MIRAGE syndrome carrying a novel de novo heterozygous missense variant in the SAMD9 gene (c.4435 G > T; p.Ala1479Ser). More... »

PAGES

4

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/s41439-020-0091-5

DOI

http://dx.doi.org/10.1038/s41439-020-0091-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1125410221

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/32194975


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