DOI

  • M. Alders
  • B.M. Hogan
  • E. Gjini
  • F. Salehi
  • L. Al-Gazali
  • E.A. Hennekam
  • E.E. Holmberg
  • M.M. Mannens
  • M.F. Mulder
  • G.J.A. Offerhaus
  • T.E. Prescott
  • E.J. Schroor
  • J.B. Verheij
  • M. de Witte
  • P.J. Zwijnenburg
  • M. Vikkula
  • S. Schulte-Merker
  • R. Hennekam
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.
Original languageEnglish
Pages (from-to)1272-1274
JournalNature Genetics
Volume41
Issue number12
DOI
StatePublished - 2009

ID: 118165