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

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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Bibliographic Details
Main Authors: Florence Roucher-Boulez, Delphine Mallet, Nicolas Chatron, Frédérique Dijoud, Daniela Brindusa Gorduza, Patricia Bretones, Yves Morel
Format: Article
Language:English
Published: Frontiers Media S.A. 2019-09-01
Series:Frontiers in Endocrinology
Subjects:
MIRAGE syndrome
reversion mutations
revertant mutations
SAMD9
disorders of sex development
fetal growth retardation
Online Access:https://www.frontiersin.org/article/10.3389/fendo.2019.00625/full

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https://www.frontiersin.org/article/10.3389/fendo.2019.00625/full

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