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Article

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

Nature genetics - 1 Dec 2009

Alders Marielle, Hogan Benjamin M, Gjini Evisa, Salehi Faranak, Al-Gazali Lihadh, Hennekam Eric A, Holmberg Eva E, Mannens Marcel M A M, Mulder Margot F, Offerhaus G Johan A, Prescott Trine E, Schroor Eelco J, Verheij Joke B G M, Witte Merlijn, Zwijnenburg Petra J, Vikkula Mikka, Schulte-Merker Stefan, Hennekam Raoul C

Abstract excerpt

Lymphedema, lymphangiectasias, mental retardation and unusual facial characteristics define the autosomal recessive Hennekam syndrome. Homozygosity mapping identified a critical chromosomal region containing CCBE1, the human ortholog of a gene essential for lymphangiogenesis in zebrafish. Homozyg...

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Source

Identifiers

PMID: 19935664
DOI: 10.1038/ng.484

Genes

CCBE1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19935664-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.PMID 19935664Read ↗

Expanding the genotypic spectrum of CCBE1 mutations in Hennekam syndrome.Semantic proximity Read ↗

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.Semantic proximity Read ↗

Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.Semantic proximity Read ↗

Ccbe1 regulates Vegfc-mediated induction of Vegfr3 signaling during embryonic lymphangiogenesisSemantic proximity Read ↗

Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 MutationsSemantic proximity Read ↗

Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome.Semantic proximity Read ↗

A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.Semantic proximity Read ↗

CCBE1 Is Essential for Mammalian Lymphatic Vascular Development and Enhances the Lymphangiogenic Effect of Vascular Endothelial Growth Factor-C In VivoSemantic proximity Read ↗

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Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting.Semantic proximity Read ↗

Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain.Semantic proximity Read ↗

Digenic Inheritance of a FOXC2 Mutation and Two PIEZO1 Mutations Underlies Congenital Lymphedema in a Multigeneration Family.Semantic proximity Read ↗

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