Pacault, Mathilde <br/><br/>
New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.  [electronic resource] 

 -  European journal of human genetics : EJHG  12 2018 
 - 1784-1790 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/s41431-018-0217-0  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Aborted Fetus--abnormalities<br/>Adult<br/>Chondrodysplasia Punctata--genetics<br/>Female<br/>Humans<br/>Male<br/>Mutation<br/>Pedigree<br/>Phenotype<br/>RNA Splicing<br/>Steroid Isomerases--genetics