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Delineation of the phenotypes and genotypes of PIK3CA-related overgrowth spectrum in East asians.

Molecular genetics and genomics : MGG - 9 Jul 2024

Chen Hongrui, Sun Bin, Liu Hongyuan, Gao Wei, Qiu Yajing, Hua Chen, Lin Xiaoxi

Abstract excerpt

PIK3CA-related overgrowth spectrum (PROS) is an umbrella term to describe a diverse range of developmental disorders. Research to date has predominantly emerged from Europe and North America, resulting in a notable scarcity of studies focusing on East Asian populations. Currently, the prevalence and distribution of PIK3CA variants across various genetic loci and their correlation with distinct phenotypes in East...

Topics

Adolescent
Child
Child, Preschool
Female
Humans
Infant
Male
Asia, Eastern
Class I Phosphatidylinositol 3-Kinases
East Asian People
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genotype

Growth Disorders

Mutation

Phenotype

Source

Identifiers

PMID: 38980418
DOI: 10.1007/s00438-024-02159-w

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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