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

Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.

Orphanet journal of rare diseases - 1 Sept 2023

Zhang Bin, He Rui, Xu Zigang, Sun Yujuan, Wei Li, Li Li, Liu Yuanxiang, Guo Wu, Song Li, Wang Huijun, Lin Zhimiao, Ma Lin

Abstract excerpt

BACKGROUND: Somatic mutations of cancer driver genes are found to be responsible for vascular malformations with clinical manifestations ranging from cutaneous birthmarks to life-threatening systemic anomalies. Till now, only a limited number of cases and mutations were reported in Chinese population. The purpose of this study was to describe the somatic mutation spectrum of a cohort of Chinese pediatrics with...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Class I Phosphatidylinositol 3-Kinases

Share to East Asian People

Share to Hemangioma

Share to Infant

Share to Vascular Malformations

Source

Open in PubMed Open full text

Identifiers

PMID: 37658401
DOI: 10.1186/s13023-023-02860-w
PMCID: PMC10474751

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.PMID 37658401Read ↗

Genetic basis for vascular anomalies.Semantic proximity Read ↗

Genetic syndromes with vascular malformations – update on molecular background and diagnosticsSemantic proximity Read ↗

Vascular malformations syndromes: an update.Semantic proximity Read ↗

Analyzing the Genetic Spectrum of Vascular Anomalies with Overgrowth via Cancer Genomics.Semantic proximity Read ↗

Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center StudySemantic proximity Read ↗

De novo cerebral cavernous malformations with PIK3CA somatic mutation and EPHB4 germline mutation in a child with multiple developmental venous anomalies and cutaneous vascular malformations.Semantic proximity Read ↗

Comprehensive molecular and clinicopathological analysis of vascular malformations: A study of 319 casesSemantic proximity Read ↗

The genetics of vascular birthmarks.Semantic proximity Read ↗

Current Status of Genetic Testing and Mosaic Variant Assessment in Somatic Overgrowth and Vascular Anomalies: Insights from the Cancer Genomics Consortium Working GroupSemantic proximity Read ↗

The Genetic Architecture of Vascular Anomalies: Current Data and Future Therapeutic Perspectives Correlated with Molecular Mechanisms.Semantic proximity Read ↗

Update on the Molecular Genetics of Vascular AnomaliesSemantic proximity Read ↗

Genetic mutations and phenotype characteristics in peripheral vascular malformations: A systematic review.Semantic proximity Read ↗

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