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

Topics Community

Article

Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.

The British journal of dermatology - 16 Jul 2024

Kuentz Paul, Engel Camille, Laeng Mathieu, Chevarin Martin, Duffourd Yannis, Martel Jéhanne, Piard Juliette, Morice-Picard Fanny, Aubert Helene, Bessis Didier, Guerrot Anne-Marie, Maruani Annabel, Boccara Olivia, Mazereeuw-Hautier Juliette, Ott Hagen, Phan Alice, Puzenat Eve, Quelin Chloe, Thauvin-Robinet Christel, Faivre Laurence, Vabres Pierre

Abstract excerpt

No abstract is available from the source.

Topics

Humans
Phenotype
Female
Male
Class Ia Phosphatidylinositol 3-Kinase
Phosphatidylinositol 3-Kinases
Child
Adolescent
Syndrome
Child, Preschool
Adult
Vascular Malformations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Infant

Source

Identifiers

PMID: 38623710
DOI: 10.1093/bjd/ljae167

Provenance

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

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.PMID 38623710Read ↗

PIK3CA vascular overgrowth syndromes: an update.Semantic proximity Read ↗

Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.Semantic proximity Read ↗

Capillary Venous Malformation With Undergrowth and Activating PIK3CA Variant: An Underrecognized Phenotype.Semantic proximity Read ↗

A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations.Semantic proximity Read ↗

Vascular malformations syndromes: an update.Semantic proximity Read ↗

Overgrowth syndromes with vascular malformations.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 ↗

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 ↗

Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series study.Semantic proximity Read ↗

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

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

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

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