A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene

A 9‐month‐old Chinese patient with Gabriele‐de Vries syndrome due to novel germline mutation in the YY1 gene

Abstract Background Gabriele‐de Vries syndrome (GADEVS), also known as YY1 haploinsufficiency syndrome, is a very rare autosomal dominant neurodevelopmental disorder (NDD) due to YY1 mutation characterized by mild‐to‐profound developmental delay (DD)/intellectual disability (ID), a wide spectrum of...

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Bibliographic Details
Main Authors: Li Tan, Ying Li, Fan Liu, Yufeng Huang, Sukun Luo, Peiwei Zhao, Weiyue Gu, Jun Lin, Aifen Zhou, Xuelian He
Format: Article
Language:English
Published: Wiley 2021-02-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
Gabriele‐de Vries syndrome
haploinsufficiency
intellectual disability
neurodevelopmental disorder
YY1 gene
Online Access:https://doi.org/10.1002/mgg3.1582

Internet

https://doi.org/10.1002/mgg3.1582

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