Fenwick, Aimee L <br/><br/>
Apparently synonymous substitutions in FGFR2 affect splicing and result in mild Crouzon syndrome.  [electronic resource] 

 -  BMC medical genetics  Aug 2014 
 - 95 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't 
<br/><br/><label>ISSN: </label>1471-2350 
<br/><br/><label>Standard No.: </label>10.1186/s12881-014-0095-4  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Amino Acid Substitution<br/>Craniofacial Dysostosis--genetics<br/>Craniosynostoses--genetics<br/>Exons<br/>Female<br/>Heterozygote<br/>Humans<br/>Male<br/>Mutation, Missense<br/>Pedigree<br/>RNA Splicing<br/>Receptor, Fibroblast Growth Factor, Type 2--genetics