Dupont, Céline <br/><br/>
COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial Stickler syndrome.  [electronic resource] 

 -  American journal of medical genetics. Part A  Oct 2013 
 - 2663-5 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.36081  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adult<br/>Arthritis--diagnosis<br/>Child<br/>Chromosome Banding<br/>Chromosomes, Human, Pair 12<br/>Chromosomes, Human, Pair 15<br/>Collagen Type II--genetics<br/>Comparative Genomic Hybridization<br/>Connective Tissue Diseases--diagnosis<br/>Female<br/>Hearing Loss, Sensorineural--diagnosis<br/>Humans<br/>In Situ Hybridization, Fluorescence<br/>Infant, Newborn<br/>Male<br/>Pregnancy<br/>Retinal Detachment--diagnosis<br/>Translocation, Genetic