Bode, Harald <br/><br/>
Non-lethal non-mosaic male with Conradi-Hunermann syndrome caused by a novel EBP c.356T>G mutation.  [electronic resource] 

 -  American journal of medical genetics. Part A  Sep 2013 
 - 2385-8 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1552-4833 
<br/><br/><label>Standard No.: </label>10.1002/ajmg.a.35985  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Chondrodysplasia Punctata--diagnosis<br/>DNA Mutational Analysis<br/>Exons<br/>Genotype<br/>Humans<br/>Infant, Newborn<br/>Male<br/>Mutation<br/>Phenotype<br/>Steroid Isomerases--genetics