Teber, Ozge Altug <br/><br/>
Genotyping in 46 patients with tentative diagnosis of Treacher Collins syndrome revealed unexpected phenotypic variation.  [electronic resource] 

 -  European journal of human genetics : EJHG  Nov 2004 
 - 879-90 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1018-4813 
<br/><br/><label>Standard No.: </label>10.1038/sj.ejhg.5201260  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Chromosome Mapping<br/>DNA Mutational Analysis--methods<br/>Female<br/>Genetic Variation<br/>Genotype<br/>Humans<br/>Male<br/>Mandibulofacial Dysostosis--diagnosis<br/>Mutation<br/>Nuclear Proteins--genetics<br/>Pedigree<br/>Phenotype<br/>Phosphoproteins--genetics<br/>Polymorphism, Single Nucleotide<br/>Syndrome