Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans - 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; et al. (Nature genetics, 2009)
Keywords: Abnormalities, Multiple - genetics; Agriculture; Amino Acid Sequence; Animal Genetics and Genomics; Animals; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; brief-communication; Cancer Research; Chromosome mapping; Consanguinity; Dysplasia; Fundamental and applied biological sciences. Psychology; Gene Function; Gene mutations; Genes, Recessive; Genetic aspects; Genetics of eukaryotes. Biological and molecular evolution; Health aspects; Heterozygote; Homozygosity; Human Genetics; Human subjects; Humans; Intellectual Disability - genetics; Lymphangiectasis - genetics; Lymphatic system; Lymphedema - genetics; Male; Molecular Sequence Data; Mutation; Pedigree; Phenotype; Proteins; Risk factors; Syndrome; Young Adult; Zebrafish; United Kingdom; Netherlands; Human; Dysplasia; Mutation; Generalized