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- Title
Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
- Authors
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
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. Homozygous and compound heterozygous mutations in seven subjects paired with functional analysis in a zebrafish model identify CCBE1 as one of few genes causing primary generalized lymph-vessel dysplasia in humans.
- Publication
Nature genetics, 2009, Vol 41, Issue 12, p1272
- ISSN
1546-1718
- Publication type
Journal Article
- DOI
10.1038/ng.484