Prenatal Features of MIRAGE Syndrome—Case Report and Review of the Literature

Prenatal Features of MIRAGE Syndrome—Case Report and Review of the Literature

MIRAGE syndrome is a recently described congenital condition characterized genetically by heterozygous gain-of-function missense mutations in the growth repressor sterile alpha domain containing 9 (SAMD9) located on the arm of chromosome 7 (7q21.2). The syndrome is rare and is usually diagnosed in n...

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Bibliographic Details
Main Authors: Anca Maria Panaitescu, Iulia Huluță, Gabriel-Petre Gorecki, Luminita Nicoleta Cima, Vlad M. Voiculescu, Florina Mihaela Nedelea, Nicolae Gică
Format: Article
Language:English
Published: MDPI AG 2024-03-01
Series:Children
Subjects:
MIRAGE syndrome
prenatal diagnosis
fetal growth restriction
SAMD9
WES
Online Access:https://www.mdpi.com/2227-9067/11/3/310

Internet

https://www.mdpi.com/2227-9067/11/3/310

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