Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.

Alders, Marielle

Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. [electronic resource] - Nature genetics Dec 2009 - 1272-4 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1546-1718

10.1038/ng.484 doi


Abnormalities, Multiple--genetics
Amino Acid Sequence
Animals
Consanguinity
Genes, Recessive
Heterozygote
Humans
Intellectual Disability--genetics
Lymphangiectasis--genetics
Lymphedema--genetics
Male
Molecular Sequence Data
Mutation
Pedigree
Phenotype
Syndrome
Young Adult