Ehmke, Nadja <br/><br/>
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome.  [electronic resource] 

 -  American journal of human genetics  Dec 2014 
 - 763-70 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.2014.11.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Adult<br/>Amino Acid Sequence<br/>Child, Preschool<br/>Exome--genetics<br/>Female<br/>Hand Deformities, Congenital--enzymology<br/>Haplotypes<br/>Heterozygote<br/>Homozygote<br/>Humans<br/>Infant<br/>Male<br/>Middle Aged<br/>Models, Molecular<br/>Molecular Sequence Data<br/>Mutation<br/>Oxidoreductases--genetics<br/>Pedigree<br/>Pierre Robin Syndrome--enzymology<br/>Sequence Alignment<br/>Sequence Analysis, DNA<br/>Young Adult