TY  - GEN
AU  - Alders,Marielle
AU  - Hogan,Benjamin M
AU  - Gjini,Evisa
AU  - Salehi,Faranak
AU  - Al-Gazali,Lihadh
AU  - Hennekam,Eric A
AU  - Holmberg,Eva E
AU  - Mannens,Marcel M A M
AU  - Mulder,Margot F
AU  - Offerhaus,G Johan A
AU  - Prescott,Trine E
AU  - Schroor,Eelco J
AU  - Verheij,Joke B G M
AU  - Witte,Merlijn
AU  - Zwijnenburg,Petra J
AU  - Vikkula,Mikka
AU  - Schulte-Merker,Stefan
AU  - Hennekam,Raoul C
TI  - Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans
SN  - 1546-1718
PY  - 2010///0105
KW  - Abnormalities, Multiple
KW  - genetics
KW  - Amino Acid Sequence
KW  - Animals
KW  - Consanguinity
KW  - Genes, Recessive
KW  - Heterozygote
KW  - Humans
KW  - Intellectual Disability
KW  - Lymphangiectasis
KW  - Lymphedema
KW  - Male
KW  - Molecular Sequence Data
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
KW  - Syndrome
KW  - Young Adult
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ng.484
ER  -