Baumann, Matthias <br/><br/>
Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.  [electronic resource] 

 -  American journal of human genetics  Feb 2012 
 - 201-16 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.2011.12.004  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Abnormalities, Multiple--genetics<br/>Adolescent<br/>Amino Acids--urine<br/>Child<br/>Child, Preschool<br/>Ehlers-Danlos Syndrome--genetics<br/>Endoplasmic Reticulum--genetics<br/>Extracellular Matrix--genetics<br/>Female<br/>Fibroblasts--metabolism<br/>Frameshift Mutation<br/>Genetic Variation<br/>Hearing Loss--genetics<br/>Heterozygote<br/>Homozygote<br/>Humans<br/>Male<br/>Middle Aged<br/>Peptidylprolyl Isomerase--genetics<br/>Phenotype<br/>Protein Folding<br/>cis-trans-Isomerases--genetics