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Article

Novel PAK3 gene missense variant associated with two Chinese siblings with intellectual disability: a case report.

BMC medical genetics - 12 Feb 2020

Qian Yanyan, Wu Bingbing, Lu Yulan, Zhou Wenhao, Wang Sujuan, Wang Huijun

Abstract excerpt

BACKGROUND: Intellectual disability (ID) constitutes the most common group of neurodevelopmental disorders. Exome sequencing has enabled the discovery of genetic mutations responsible for a wide range of ID disorders. CASE PRESENTATION: In this study, we reported on two male siblings, aged 4 and 2 years, with motor and mental developmental delays and mild dysmorphic facial features. To identify the genetic causes...

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Share to Developmental Disabilities
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32050918
DOI: 10.1186/s12881-020-0957-x
PMCID: PMC7017536

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