Genetic and clinical insights into MAST4-related neurodevelopmental disorders

Genetic and clinical insights into MAST4-related neurodevelopmental disorders

ObjectiveDe novo variants in MAST4 are increasingly implicated in neurodevelopmental disorders (NDDs), but the associated phenotypic spectrum remains incompletely characterized. We report a Chinese child with global developmental delay (GDD) and a novel MAST4 variant, further delineating the genotyp...

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Bibliographic Details
Main Authors: Xiaohong Zheng, Foyang Fan, Bin Lei, Yao Xu, Min Peng, Youfeng Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-06-01
Series:Frontiers in Pediatrics
Subjects:
MAST4
developmental delay
myelination dysplasia
de novo variant
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fped.2025.1603050/full
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