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

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...

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Dades bibliogràfiques
Publicat a:Hum Genome Var
Autors principals: Onuma, Shinsuke, Wada, Tamaki, Araki, Ryosuke, Wada, Kazuko, Tanase-Nakao, Kanako, Narumi, Satoshi, Fukui, Miho, Shoji, Yasuko, Etani, Yuri, Ida, Shinobu, Kawai, Masanobu
Format: Artigo
Idioma:Inglês
Publicat: Nature Publishing Group UK 2020
Matèries:
Data Report
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7057985/
https://ncbi.nlm.nih.gov/pubmed/32194975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-020-0091-5
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