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

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.

American journal of human genetics - 1 Jun 2003

Irrthum Alexandre, Devriendt Koenraad, Chitayat David, Matthijs Gert, Glade Conrad, Steijlen Peter M, Fryns Jean-Pierre, Van Steensel Maurice A M, Vikkula Miikka

Abstract excerpt

Hereditary lymphedema is a developmental disorder characterized by chronic swelling of the extremities due to dysfunction of the lymphatic vessels. Two responsible genes have been identified: the vascular endothelial growth factor receptor 3 (VEGFR3) gene, implicated in congenital lymphedema, or Milroy disease, and the forkhead-related transcription factor gene FOXC2, causing lymphedema-distichiasis. We describe...

Read the complete abstract on PubMed

Topics

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

Share to Consanguinity
Share to Conserved Sequence

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA, Satellite

Share to Genes, Recessive

Share to High Mobility Group Proteins

Share to Hypotrichosis

Share to Lymphedema

Share to SOXF Transcription Factors

Source

Open in PubMed Open full text

Identifiers

PMID: 12740761
DOI: 10.1086/375614
PMCID: PMC1180307

Genes

SOX18
FOXC2

Variants

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

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia.PMID 12740761Read ↗

Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum.Semantic proximity Read ↗

Further delineation of the SOX18-related Hypotrichosis, Lymphedema, Telangiectasia syndrome (HTLS).Semantic proximity Read ↗

Aortic Dilatation Associated With a De Novo Mutation in the SOX18 Gene: Expanding the Clinical Spectrum of Hypotrichosis-Lymphedema-Telangiectasia Syndrome.Semantic proximity Read ↗

Hypotrichosis‐lymphedema‐telangiectasia‐renal defect associated with a truncating mutation in the <scp>SOX18</scp> geneSemantic proximity Read ↗

A novel SOX18 mutation uncovered in Jordanian patient with hypotrichosis-lymphedema-telangiectasia syndrome by Whole Exome Sequencing.Semantic proximity Read ↗

Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturationSemantic proximity Read ↗

Sox18 and Sox7 play redundant roles in vascular development.Semantic proximity Read ↗

Mutations in the VEGFR3 Signaling Pathway Explain 36% of Familial LymphedemaSemantic proximity Read ↗

Sox18 Genetically Interacts With VegfC to Regulate Lymphangiogenesis in ZebrafishSemantic proximity Read ↗

Bleeding Diathesis in Hypotrichosis-Lymphedema-Telangiectasia Syndrome due to Decreased von Willebrand Factor.Semantic proximity Read ↗

The VCAM-1 gene that encodes the vascular cell adhesion molecule is a target of the Sry-related high mobility group box gene, Sox18.Semantic proximity Read ↗

The Connective Tissue Disorder Associated with Recessive Variants in the SLC39A13 Zinc Transporter Gene (Spondylo-Dysplastic Ehlers-Danlos Syndrome Type 3): Insights from Four Novel Patients and Follow-Up on Two Original Cases.Semantic proximity Read ↗

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