Bui, Catherine <br/><br/>
XYLT1 mutations in Desbuquois dysplasia type 2.  [electronic resource] 

 -  American journal of human genetics  Mar 2014 
 - 405-14 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1537-6605 
<br/><br/><label>Standard No.: </label>10.1016/j.ajhg.2014.01.020  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Bone and Bones--metabolism<br/>Child<br/>Consanguinity<br/>Craniofacial Abnormalities--genetics<br/>DNA, Complementary--metabolism<br/>Dwarfism--genetics<br/>Exome<br/>Female<br/>Fibroblasts--metabolism<br/>Genetic Predisposition to Disease<br/>Homozygote<br/>Humans<br/>Joint Instability--genetics<br/>Male<br/>Microsatellite Repeats--genetics<br/>Mutation<br/>Ossification, Heterotopic--genetics<br/>Pentosyltransferases--genetics<br/>Polydactyly--genetics<br/>Proteoglycans--metabolism<br/>Sequence Analysis, DNA<br/>UDP Xylose-Protein Xylosyltransferase