The case of a patient with MIRAGE syndrome with familial dysautonomia-like symptoms

We describe a case of posthumously diagnosed MIRAGE syndrome (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital problems, and Enteropathy) in a girl with a new pathogenic SAMD9 variant (p.F437S), who was initially considered to have familial dysautonomia (FD)-like disease...

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Detalles Bibliográficos
Autores principales: Kawashima-Sonoyama, Yuki, Okuno, Keisuke, Dohmoto, Tomotsune, Tanase-Nakao, Kanako, Narumi, Satoshi, Namba, Noriyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Data Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8275606/
https://www.ncbi.nlm.nih.gov/pubmed/34253717
http://dx.doi.org/10.1038/s41439-021-00158-6

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8275606/
https://www.ncbi.nlm.nih.gov/pubmed/34253717
http://dx.doi.org/10.1038/s41439-021-00158-6

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