Condition: THANATOPHORIC DYSPLASIA, TYPE I (disorder)
rs121913103 in
FGFR3 gene and
THANATOPHORIC DYSPLASIA, TYPE I (disorder)
PMID 17509076 2007 The localization of FGFR3 mutations causing thanatophoric dysplasia type I differentially affects phosphorylation, processing and ubiquitylation of the receptor.
PMID 7647778 1995 Stop codon FGFR3 mutations in thanatophoric dwarfism type 1.
PMID 8589699 1995 Another mutation that results in the substitution of an unpaired cysteine residue in the extracellular domain of FGFR3 in thanatophoric dysplasia type I.
PMID 8845844 1996 Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).
PMID 9790257 1998 G370C mutation in the FGFR3 gene in a Japanese patient with thanatophoric dysplasia.
PMID 10671061 1998 Lys650Met substitution in the tyrosine kinase domain of the fibroblast growth factor receptor gene causes thanatophoric dysplasia Type I. Mutations in brief no. 199. Online.
PMID 10360402 1999 Platyspondylic lethal skeletal dysplasia, San Diego type, is caused by FGFR3 mutations.
PMID 7773297 1995 Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3.
PMID 16912704 2006 Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia.
PMID 9790257 1998 In conclusion, we have identified the G370C mutation in the FGFR3 gene in a Japanese TD1 patient.
PMID 7773297 1995 Of 39 individuals with a second type of TD, 22 had a mutation causing an Arg248Cys change and one had a Ser371Cys substitution, both in the extracellular region of the protein.
PMID 7773297 1995 Of 39 individuals with a second type of TD, 22 had a mutation causing an Arg248Cys change and one had a Ser371Cys substitution, both in the extracellular region of the protein.