title: An uncommon G375C substitution in a newborn with achondroplasia.
abstract: We report a G-to-T de novo transversion mutation causing the substitution of a glycine with a cysteine (G375C) in a newborn with achondroplasia. This rare observation confirms allelic heterogeneity.
authors.affiliation: Division of Medical Genetics, CHUV, Lausanne Switzerland.
authors.forename: M C
authors.initials: MC
authors.lastname: Addor
authors.forename: F
authors.initials: F
authors.lastname: Gudinchet
authors.forename: A
authors.initials: A
authors.lastname: Truttmann
authors.forename: D F
authors.initials: DF
authors.lastname: Schorderet
mesh_terms: D000130:Achondroplasia / Q000175:diagnosis / Q000235:genetics*; D000483:Alleles; D019943:Amino Acid Substitution / Q000235:genetics*; D003062:Codon; D003545:Cysteine / Q000235:genetics; D005998:Glycine / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics*
chemical_list: D003062:Codon; D017468:Receptors, Fibroblast Growth Factor; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D003545:Cysteine; D005998:Glycine