TY  - GEN
AU  - Brouillard,Pascal
AU  - Dupont,Laura
AU  - Helaers,Raphael
AU  - Coulie,Richard
AU  - Tiller,George E
AU  - Peeden,Joseph
AU  - Colige,Alain
AU  - Vikkula,Miikka
TI  - Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3
SN  - 1460-2083
PY  - 2018///0321
KW  - ADAMTS Proteins
KW  - deficiency
KW  - Adult
KW  - Alleles
KW  - Amino Acid Sequence
KW  - Amino Acid Substitution
KW  - Child
KW  - Conserved Sequence
KW  - Craniofacial Abnormalities
KW  - genetics
KW  - Endothelial Cells
KW  - metabolism
KW  - Female
KW  - HEK293 Cells
KW  - Humans
KW  - Lymphangiectasis, Intestinal
KW  - Lymphedema
KW  - Male
KW  - Mutation, Missense
KW  - Pedigree
KW  - Procollagen N-Endopeptidase
KW  - Vascular Endothelial Growth Factor C
KW  - Vascular Endothelial Growth Factor Receptor-3
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddx297
ER  -