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

Capillary malformations in a child caused by a novel HRAS mutation.

Pediatric dermatology - 1 Jan 2000

van Gysel Dirk, de Maeseneer Hannelore, Legius Eric, Brems Hilde

Abstract excerpt

A 6-year-old boy with multiple capillary malformations of the port-wine birthmark (PWB) type on the right leg since birth presented with a varicose vein and segmental overgrowth of the affected leg. Genetic testing on affected skin confirmed the presence of a somatic novel pathogenic HRAS 30 bp in-frame duplication/insertion in the switch II domain. This case illustrates the phenotypic overlap of different...

Read the complete abstract on PubMed

Topics

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

Share to Vascular Malformations
Share to Proto-Oncogene Proteins p21(ras)
Share to Abnormalities, Multiple

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Capillaries

Share to Mutation

Source

Identifiers

PMID: 38018302
DOI: 10.1111/pde.15458

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Capillary malformations in a child caused by a novel HRAS mutation.PMID 38018302Read ↗

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

Arteriovenous malformation associated with a HRAS mutationSemantic proximity Read ↗

Genetic basis for vascular anomalies.Semantic proximity Read ↗

Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.Semantic proximity Read ↗

The genetics of vascular birthmarks.Semantic proximity Read ↗

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

Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.Semantic proximity Read ↗

Molecular Basis of Vascular BirthmarksSemantic proximity Read ↗

Genetics of hemangiomas, vascular malformations, and primary lymphedema.Semantic proximity Read ↗

Familial early-onset deep venous thrombosis associated with a novel HRG mutation.Semantic proximity Read ↗

Analysis of Whole Genome Sequencing in a Cohort of Individuals with PHACE Syndrome Suggests Dysregulation of RAS/PI3K SignalingSemantic proximity Read ↗

Genetic causes of vascular malformationsSemantic proximity Read ↗

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