title: Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
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.
authors: Department of Clinical Genetics, Academic Medical Centre, Amsterdam, The Netherlands.
authors: Marielle
authors: M
authors: Alders
authors: Benjamin M
authors: BM
authors: Hogan
authors: Evisa
authors: E
authors: Gjini
authors: Faranak
authors: F
authors: Salehi
authors: Lihadh
authors: L
authors: Al-Gazali
authors: Eric A
authors: EA
authors: Hennekam
authors: Eva E
authors: EE
authors: Holmberg
authors: Marcel M A M
authors: MM
authors: Mannens
authors: Margot F
authors: MF
authors: Mulder
authors: G Johan A
authors: GJ
authors: Offerhaus
authors: Trine E
authors: TE
authors: Prescott
authors: Eelco J
authors: EJ
authors: Schroor
authors: Joke B G M
authors: JB
authors: Verheij
authors: Merlijn
authors: M
authors: Witte
authors: Petra J
authors: PJ
authors: Zwijnenburg
authors: Mikka
authors: M
authors: Vikkula
authors: Stefan
authors: S
authors: Schulte-Merker
authors: Raoul C
authors: RC
authors: Hennekam
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D003241:Consanguinity; D005808:Genes, Recessive; D006579:Heterozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008200:Lymphangiectasis / Q000235:genetics*; D008209:Lymphedema / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D013577:Syndrome; D055815:Young Adult