Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Asia, Eastern
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Class I Phosphatidylinositol 3-Kinases

Share to East Asian People

Share to Genetic Association Studies

Share to Growth Disorders

Share to Infant

Source

Identifiers

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

Genes

PIK3CA
AKT1
C2
GNA11
GNAQ
KRAS
MAP3K3
PTEN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Delineation of the phenotypes and genotypes of PIK3CA-related overgrowth spectrum in East asians.PMID 38980418Read ↗

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.Semantic proximity Read ↗

Phenotypic and molecular characterization of five patients with PIK3CA-related overgrowth spectrum (PROS).Semantic proximity Read ↗

Cancer-Associated PIK3CA Mutations in Overgrowth Disorders.Semantic proximity Read ↗

Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).Semantic proximity Read ↗

Updates on Diagnosis and Treatment of PIK3CA-Related Overgrowth Spectrum.Semantic proximity Read ↗

Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.Semantic proximity Read ↗

PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.Semantic proximity Read ↗

Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association.Semantic proximity Read ↗

PIK3CA-related overgrowth with an uncommon phenotype: case report.Semantic proximity Read ↗

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.Semantic proximity Read ↗

Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.Semantic proximity Read ↗

[PIK3CA-related overgrowth syndrome (PROS)].Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.