Toydemir, Reha M <br/><br/>
A novel mutation in FGFR3 causes camptodactyly, tall stature, and hearing loss (CATSHL) syndrome.  [electronic resource] 

 -  American journal of human genetics  Nov 2006 
 - 935-41 p.  digital 
<br/><br/> Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S. 
<br/><br/><label>ISSN: </label>0002-9297 
<br/><br/><label>Standard No.: </label>10.1086/508433  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Sequence<br/>Amino Acid Substitution<br/>Animals<br/>Base Sequence<br/>Bone Diseases, Developmental--genetics<br/>DNA--genetics<br/>Female<br/>Fingers--abnormalities<br/>Hearing Loss, Bilateral--genetics<br/>Hearing Loss, Sensorineural--genetics<br/>Heterozygote<br/>Humans<br/>Male<br/>Mice<br/>Mice, Knockout<br/>Models, Molecular<br/>Molecular Sequence Data<br/>Mutation, Missense<br/>Pedigree<br/>Phenotype<br/>Protein Structure, Tertiary<br/>Receptor, Fibroblast Growth Factor, Type 3--chemistry<br/>Sequence Homology, Amino Acid<br/>Syndrome<br/>Toes--abnormalities