FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry

@inproceedings{Xue2014FGFR3MF,
  title={FGFR3 mutation frequency in 324 cases from the International Skeletal Dysplasia Registry},
  author={Yuan Xue and Angela Sun and Pertchoui B. Mekikian and Jorge Martin and David L. Rimoin and Ralph S. Lachman and William R Wilcox},
  booktitle={Molecular genetics & genomic medicine},
  year={2014}
}
Fibroblast growth factor receptor 3 (FGFR3) is the only gene known to cause achondroplasia (ACH), hypochondroplasia (HCH), and thanatophoric dysplasia types I and II (TD I and TD II). A second, as yet unidentified, gene also causes HCH. In this study, we used sequencing analysis to determine the frequency of FGFR3 mutations for each phenotype in 324 cases from the International Skeletal Dysplasia Registry (ISDR). Our data suggest that there is a considerable overlap of genotype and phenotype… CONTINUE READING

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South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde • 2016
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