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

• Main Authors: Anca Maria Panaitescu (Author), Iulia Huluță (Author), Gabriel-Petre Gorecki (Author), Luminita Nicoleta Cima (Author), Vlad M. Voiculescu (Author), Florina Mihaela Nedelea (Author), Nicolae Gică (Author)
• Format: Book
• Published: MDPI AG, 2024-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...