Van Dijk, Fleur S <br/><br/>
CRTAP mutations in lethal and severe osteogenesis imperfecta: the importance of combining biochemical and molecular genetic analysis.  [electronic resource] 

 -  European journal of human genetics : EJHG  Dec 2009 
 - 1560-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1476-5438 
<br/><br/><label>Standard No.: </label>10.1038/ejhg.2009.75  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Child, Preschool<br/>DNA Mutational Analysis<br/>Extracellular Matrix Proteins--genetics<br/>Family<br/>Fatal Outcome<br/>Female<br/>Fetus--abnormalities<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Molecular Biology--methods<br/>Molecular Chaperones<br/>Mutation--genetics<br/>Osteogenesis Imperfecta--diagnostic imaging<br/>Pedigree<br/>Pregnancy<br/>Radiography