Caparrós-Martin, José A <br/><br/>
Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations.  [electronic resource] 

 -  American journal of medical genetics. Part A  Jun 2013 
 - 1354-69 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.35938  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Adolescent<br/>Alu Elements--genetics<br/>Child<br/>Child, Preschool<br/>Collagen Type I--genetics<br/>Cyclophilins--genetics<br/>Diphosphonates--therapeutic use<br/>Extracellular Matrix Proteins--genetics<br/>Eye Proteins--genetics<br/>Female<br/>Genes, Recessive<br/>Genetic Association Studies<br/>Humans<br/>Infant<br/>Male<br/>Membrane Glycoproteins--genetics<br/>Molecular Chaperones<br/>Molecular Sequence Data<br/>Mutation<br/>Nerve Growth Factors--genetics<br/>Osteogenesis Imperfecta--diagnostic imaging<br/>Pedigree<br/>Prolyl Hydroxylases<br/>Proteoglycans--genetics<br/>Radiography<br/>Sequence Analysis, DNA<br/>Serpins--genetics<br/>Tacrolimus Binding Proteins--genetics<br/>Young Adult