First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism

First Reported Case of Gabriele-de Vries Syndrome with Spinal Dysraphism

Gabriele-de Vries syndrome is a rare autosomal dominant genetic disease caused by de novo pathogenic variants in the <i>Yin Yang 1</i> (<i>YY1)</i> gene. Individuals with this syndrome present with multiple congenital anomalies, as well as a delay in development and intellect...

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Bibliographic Details
Main Authors: Nenad Koruga, Silvija Pušeljić, Marko Babić, Mario Ćuk, Andrea Cvitković Roić, Vjenceslav Vrtarić, Anamarija Soldo Koruga, Alen Rončević, Višnja Tomac, Tatjana Rotim, Tajana Turk, Domagoj Kretić, Nora Pušeljić, Rebeka Nađ, Ivana Serdarušić
Format: Article
Language:English
Published: MDPI AG 2023-03-01
Series:Children
Subjects:
Gabriele-de Vries syndrome
spinal dysraphism
whole-exome sequencing
YY1
Arnold-Chiari malformation
Online Access:https://www.mdpi.com/2227-9067/10/4/623

Internet

https://www.mdpi.com/2227-9067/10/4/623

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