Prenatal Diagnosis of <i>PPP2R1A</i>-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature

Prenatal Diagnosis of <i>PPP2R1A</i>-Related Neurodevelopmental Disorders Using Whole Exome Sequencing: Clinical Report and Review of Literature

<i>PPP2R1A</i>-related neurodevelopmental disorder (NDD) is expressed with autosomal dominant inheritance and is typically caused by a pathogenic de novo <i>PPP2R1A</i> mutation. It is characterized by the predominant features of hypotonia, developmental delay, moderate-to-se...

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Bibliographic Details
Main Authors: Tingying Lei, Li Zhen, Xin Yang, Min Pan, Fang Fu, Jin Han, Lushan Li, Dongzhi Li, Can Liao
Format: Article
Language:English
Published: MDPI AG 2023-01-01
Series:Genes
Subjects:
prenatal diagnosis
<i>PPP2R1A</i>
neurodevelopmental disorder (NDD)
whole-exome sequencing (WES)
macrocephaly
agenesis of corpus callosum (ACC)
Online Access:https://www.mdpi.com/2073-4425/14/1/126

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https://www.mdpi.com/2073-4425/14/1/126

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