A Novel de novo Mutation in EBF3 Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy

A Novel de novo Mutation in EBF3 Associated With Hypotonia, Ataxia, and Delayed Development Syndrome in a Chinese Boy

ObjectiveGlobal developmental delay has markedly high phenotypic and genetic heterogeneity, and is a great challenge for clinical diagnosis. Hypotonia, ataxia, and delayed development syndrome (HADDS), first reported in 2017, is one type of global development delay. The aim of the present study was...

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Bibliographic Details
Main Authors: Yanru Huang, Libin Mei, Yangdan Wang, Huiming Ye, Xiaomin Ma, Jian Zhang, Meijiao Cai, Ping Li, Yunsheng Ge, Yulin Zhou
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-07-01
Series:Frontiers in Genetics
Subjects:
hypotonia
ataxia
delayed development syndrome
EBF3
pathogenic mutation
trio whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2021.676832/full

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https://www.frontiersin.org/articles/10.3389/fgene.2021.676832/full

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