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

• Main Authors: Nenad Koruga (Author), Silvija Pušeljić (Author), Marko Babić (Author), Mario Ćuk (Author), Andrea Cvitković Roić (Author), Vjenceslav Vrtarić (Author), Anamarija Soldo Koruga (Author), Alen Rončević (Author), Višnja Tomac (Author), Tatjana Rotim (Author), Tajana Turk (Author), Domagoj Kretić (Author), Nora Pušeljić (Author), Rebeka Nađ (Author), Ivana Serdarušić (Author)
• Format: Book
• Published: MDPI AG, 2023-03-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...