Meyer, Sascha <br/><br/>
Brachytelephalangic chondrodysplasia punctata with a new hemizygous missense mutation in a neonate.  [electronic resource] 

 -  American journal of medical genetics. Part A  Mar 2013 
 - 626-9 p.  digital 
<br/><br/> Publication Type: Case Reports; Letter 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.35758  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Arylsulfatases--genetics<br/>Chondrodysplasia Punctata--diagnostic imaging<br/>Genetic Diseases, X-Linked--diagnostic imaging<br/>Hemizygote<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Mutation, Missense<br/>Radiography