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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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| Publicado no: | Hum Genome Var |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8275606/ https://ncbi.nlm.nih.gov/pubmed/34253717 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-021-00158-6 |
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