Frosk, Patrick <br/><br/>
A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature.  [electronic resource] 

 -  BMC medical genetics  Apr 2015 
 - 28 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/s12881-015-0175-0  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Calcium-Binding Proteins--genetics<br/>Consanguinity<br/>Craniofacial Abnormalities--genetics<br/>DNA Mutational Analysis<br/>Female<br/>Genital Diseases, Male--genetics<br/>Genotype<br/>Humans<br/>Hypoalbuminemia--genetics<br/>Infant<br/>Lymphangiectasis, Intestinal--genetics<br/>Lymphatic System--embryology<br/>Lymphedema--genetics<br/>Pakistan<br/>Polydactyly--genetics<br/>Polymorphism, Single Nucleotide<br/>Protein-Losing Enteropathies--genetics<br/>Tumor Suppressor Proteins--genetics