Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.

Brouillard, Pascal

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3. [electronic resource] - Human molecular genetics 11 2017 - 4095-4104 p. digital

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

1460-2083

10.1093/hmg/ddx297 doi


ADAMTS Proteins--deficiency
Adult
Alleles
Amino Acid Sequence
Amino Acid Substitution
Child
Conserved Sequence
Craniofacial Abnormalities--genetics
Endothelial Cells--metabolism
Female
HEK293 Cells
Humans
Lymphangiectasis, Intestinal--genetics
Lymphedema--genetics
Male
Mutation, Missense
Pedigree
Procollagen N-Endopeptidase--deficiency
Vascular Endothelial Growth Factor C--genetics
Vascular Endothelial Growth Factor Receptor-3--genetics