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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Detalles Bibliográficos
Autores principales: Lu, Guanting, Ma, Liya, Xu, Pei, Xian, Binqiang, Wu, Lianying, Ding, Jianying, He, Xiaoyan, Xia, Huiyun, Ding, Wuwu, Yang, Zhirong, Peng, Qiongling
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9008544/
https://www.ncbi.nlm.nih.gov/pubmed/35432459
http://dx.doi.org/10.3389/fgene.2022.840577

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