HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders

HPDL mutations identified by exome sequencing are associated with infant neurodevelopmental disorders

Abstract Background Recent research found that biallelic HPDL variants can cause neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities (NEDSWMA), with only a few reports. Clinical phenotypic information on individuals with damaging HPDL variants may also be inc...

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Bibliographic Details
Main Authors: Yanhong Wang, Xuan Zheng, Chao Feng, Xiaoge Fan, Lei Liu, Pengbo Guo, Zhi Lei, Shiyue Mei
Format: Article
Language:English
Published: Wiley 2022-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
HPDL gene
infant
neurodevelopmental disorders
spastic movement disorders
Online Access:https://doi.org/10.1002/mgg3.2025

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