Bunyan, David J <br/><br/>
Diagnostic screening identifies a wide range of mutations involving the SHOX gene, including a common 47.5 kb deletion 160 kb downstream with a variable phenotypic effect.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jun 2013 
 - 1329-38 p.  digital 
<br/><br/> Publication Type: Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.35919  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Base Sequence<br/>Child<br/>Child, Preschool<br/>Cohort Studies<br/>Dwarfism--genetics<br/>Female<br/>Follow-Up Studies<br/>Genetic Association Studies<br/>Genetic Testing<br/>Genotype<br/>Growth Disorders--genetics<br/>Heterozygote<br/>Homeodomain Proteins--genetics<br/>Homozygote<br/>Humans<br/>Mutation<br/>Osteochondrodysplasias--genetics<br/>Pedigree<br/>Phenotype<br/>Sequence Deletion<br/>Short Stature Homeobox Protein