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...

Descripción completa

Detalles Bibliográficos
Autores principales: Onuma, Shinsuke, Wada, Tamaki, Araki, Ryosuke, Wada, Kazuko, Tanase-Nakao, Kanako, Narumi, Satoshi, Fukui, Miho, Shoji, Yasuko, Etani, Yuri, Ida, Shinobu, Kawai, Masanobu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057985/
https://www.ncbi.nlm.nih.gov/pubmed/32194975
http://dx.doi.org/10.1038/s41439-020-0091-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7057985/
https://www.ncbi.nlm.nih.gov/pubmed/32194975
http://dx.doi.org/10.1038/s41439-020-0091-5

Ejemplares similares