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Nat Genet. 2009 Dec;41(12):1272-4. doi: 10.1038/ng.484.

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

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  • 1Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.

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.

PMID:
19935664
[PubMed - indexed for MEDLINE]
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