A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies

A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies

Background: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a rare syndromic disorder characterized by global neurodevelopmental delay, early-onset hypotonia, poor overall growth, poor speech/language ability, and additional common phenotypes such as eye...

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Bibliographic Details
Main Authors: Guanting Lu, Liya Ma, Pei Xu, Binqiang Xian, Lianying Wu, Jianying Ding, Xiaoyan He, Huiyun Xia, Wuwu Ding, Zhirong Yang, Qiongling Peng
Format: Article
Language:English
Published: Frontiers Media S.A. 2022-03-01
Series:Frontiers in Genetics
Subjects:
Zmiz1
NEDDFSA
Chinese
low-complexity region
whole-exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2022.840577/full

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https://www.frontiersin.org/articles/10.3389/fgene.2022.840577/full

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