Brouillard, Pascal <br/><br/>
Loss of ADAMTS3 activity causes Hennekam lymphangiectasia-lymphedema syndrome 3.  [electronic resource] 

 -  Human molecular genetics  11 2017 
 - 4095-4104 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1460-2083 
<br/><br/><label>Standard No.: </label>10.1093/hmg/ddx297  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>ADAMTS Proteins--deficiency<br/>Adult<br/>Alleles<br/>Amino Acid Sequence<br/>Amino Acid Substitution<br/>Child<br/>Conserved Sequence<br/>Craniofacial Abnormalities--genetics<br/>Endothelial Cells--metabolism<br/>Female<br/>HEK293 Cells<br/>Humans<br/>Lymphangiectasis, Intestinal--genetics<br/>Lymphedema--genetics<br/>Male<br/>Mutation, Missense<br/>Pedigree<br/>Procollagen N-Endopeptidase--deficiency<br/>Vascular Endothelial Growth Factor C--genetics<br/>Vascular Endothelial Growth Factor Receptor-3--genetics