Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder

Context: MIRAGE (Myelodysplasia, Infection, Restriction of growth, Adrenal hypoplasia, Genital phenotypes, Enteropathy) syndrome is a severe multisystem disorder with high mortality. It is caused by a heterozygous gain of function mutation in the growth repressor gene SAMD9. The increasing number of...

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Detalles Bibliográficos
Autores principales: Roucher-Boulez, Florence, Mallet, Delphine, Chatron, Nicolas, Dijoud, Frédérique, Gorduza, Daniela Brindusa, Bretones, Patricia, Morel, Yves
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2019
Materias:
Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749008/
https://www.ncbi.nlm.nih.gov/pubmed/31572304
http://dx.doi.org/10.3389/fendo.2019.00625

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6749008/
https://www.ncbi.nlm.nih.gov/pubmed/31572304
http://dx.doi.org/10.3389/fendo.2019.00625

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