Bengur, Fuat Baris <br/><br/>
p.Ser348Cys mutation in FGFR3 gene leads to "Mild ACH /Severe HCH" phenotype.  [electronic resource] 

 -  European journal of medical genetics  Feb 2020 
 - 103659 p.  digital 
<br/><br/> Publication Type: Case Reports; Journal Article 
<br/><br/><label>ISSN: </label>1878-0849 
<br/><br/><label>Standard No.: </label>10.1016/j.ejmg.2019.04.016  doi 
<br/><br/><label>Subjects--Topical Terms: </label><br/>Acanthosis Nigricans<br/>Achondroplasia--diagnosis<br/>Amino Acid Sequence<br/>Bone and Bones--abnormalities<br/>Dwarfism--diagnosis<br/>Heterozygote<br/>Humans<br/>Hyperinsulinism<br/>Infant<br/>Limb Deformities, Congenital--diagnosis<br/>Lordosis--congenital<br/>Male<br/>Phenotype<br/>Point Mutation<br/>Protein Domains<br/>Receptor, Fibroblast Growth Factor, Type 3--blood<br/>Sequence Analysis, DNA