Genotypes and Phenotypes of MEF2C Haploinsufficiency Syndrome: New Cases and Novel Point Mutations

Aim: MEF2C haploinsufficiency syndrome (MCHS) is a severe neurodevelopmental disorder. We describe the clinical phenotypes and genotypes of seven patients with MCHS to enhance the understanding of clinical manifestations and genetic alterations associated with MCHS. Method: Seven patients (6 females...

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Veröffentlicht in:Front Pediatr
Hauptverfasser: Wan, Lin, Liu, Xinting, Hu, Linyan, Chen, Huimin, Sun, Yulin, Li, Zhichao, Wang, Zhenfang, Lin, Zhi, Zou, Liping, Yang, Guang
Format: Artigo
Sprache:Inglês
Veröffentlicht: Frontiers Media S.A. 2021
Schlagworte:
Pediatrics
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8155578/
https://ncbi.nlm.nih.gov/pubmed/34055696
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fped.2021.664449
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