A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review

A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review

Abstract Background Global developmental delay (GDD) has a heterogeneous clinical profile among patients, accounting for approximately 1%–3% of cases in children. An increasing number of gene defects have been demonstrated to be associated with GDD; up to now, only limited studies have reported deve...

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Bibliographic Details
Main Authors: Jinhong Zhang, Yan Lu, Xiaoyu Tian, Xinyi Men, Yange Zhang, Huifang Yan, Fan Yang, Zuozhen Yang, Xiuxia Wang
Format: Article
Language:English
Published: Wiley 2022-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
clinical heterogeneity
global developmental delay
Trio‐WES
WDR45B
Online Access:https://doi.org/10.1002/mgg3.2036

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