Giunta, Cecilia <br/><br/>
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history.  [electronic resource] 

 -  Genetics in medicine : official journal of the American College of Medical Genetics  01 2018 
 - 42-54 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1530-0366 
<br/><br/><label>Standard No.: </label>10.1038/gim.2017.70  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Alleles<br/>Child<br/>Child, Preschool<br/>Chromosome Mapping<br/>Cohort Studies<br/>DNA Mutational Analysis<br/>Ehlers-Danlos Syndrome--diagnosis<br/>Female<br/>Genetic Association Studies<br/>Humans<br/>Magnetic Resonance Angiography<br/>Magnetic Resonance Imaging<br/>Male<br/>Mutation<br/>Peptidylprolyl Isomerase--genetics<br/>Phenotype