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

Published in:	Molecular Genetics & Genomic Medicine
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
Subjects:	Gabriele‐de Vries syndrome haploinsufficiency intellectual disability neurodevelopmental disorder YY1 gene
Online Access:	https://doi.org/10.1002/mgg3.1582