Mackenroth, Luisa <br/><br/>
Novel ADAMTSL2-mutations in a patient with geleophysic dysplasia type I.  [electronic resource] 

 -  Clinical dysmorphology  Jul 2016 
 - 106-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1473-5717 
<br/><br/><label>Standard No.: </label>10.1097/MCD.0000000000000124  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>ADAMTS Proteins--genetics<br/>Alleles<br/>Bone Diseases, Developmental--diagnosis<br/>DNA Mutational Analysis<br/>Genetic Association Studies<br/>Genotype<br/>Humans<br/>Infant<br/>Limb Deformities, Congenital--diagnosis<br/>Male<br/>Mutation<br/>Phenotype