Alders, M. and Hogan, B.M. and Gjini, E. and Salehi, F. and Al-Gazali, L. and Hennekam, E.A. and Holmberg, E.E. and Mannens, M.M. and Mulder, M.F. and Offerhaus, G.J.A. and Prescott, T.E. and Schroor, E.J. and Verheij, J.B. and Witte de, M. and Zwijnenburg, P.J. and Vikkula, M. and Schulte-Merker, S. and Hennekam, R. (2009) Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nature Genetics, 41, 1272-4. ISSN 1061-4036.
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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.
|Deposited On:||24 Dec 2009 01:00|
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