Kemeny, Stéphan <br/><br/>
Clinical and molecular description of a 17q21.33 microduplication in a girl with severe kyphoscoliosis and developmental delay.  [electronic resource] 

 -  European journal of medical genetics  Oct 2014 
 - 552-7 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2014.07.003  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Chromosomes, Human, Pair 17<br/>Collagen Type I--genetics<br/>Collagen Type I, alpha 1 Chain<br/>Comparative Genomic Hybridization<br/>Developmental Disabilities--genetics<br/>Extracellular Matrix Proteins--genetics<br/>Female<br/>Gene Duplication<br/>Humans<br/>Intellectual Disability--genetics<br/>Microcephaly--genetics<br/>Musculoskeletal Abnormalities--genetics<br/>Protein Phosphatase 1--genetics<br/>Sarcoglycans--genetics<br/>Scoliosis--genetics