Corpus ID: 13207435

[A study of genetic heterogeneity in Pfeiffer syndrome].

@article{Ma1998ASO,
  title={[A study of genetic heterogeneity in Pfeiffer syndrome].},
  author={H. Ma and Y. Wang and Z. Mi and M. Hao and L. Yang and S. Zhao and S. Ji and Z. Jing},
  journal={Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics},
  year={1998},
  volume={15 2},
  pages={
          81-4
        }
}
  • H. Ma, Y. Wang, +5 authors Z. Jing
  • Published 1998
  • Biology, Medicine
  • Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
OBJECTIVE To understand the molecular pathology of Pfeiffer syndrome. METHODS DNA from peripheral blood was examined in 4 families with Pfeiffer syndrome by SSCP-sequence analyses and PCR-restriction enzyme digestion. RESULTS The authors found the mutations of FGFR2 gene in two families, an A to G transition in the 3' acceptor splice site of intron 8 in a family, and Asp321 Ala substitution in exon 9 in another family. In addition, the mutation in exon 5 of FGFR1 gene (Pro252Arg) was found… Expand
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Clinical spectrum of fibroblast growth factor receptor mutations
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The present review list all mutations described to date in these three fibroblast growth factor receptor genes and the phenotypes associated with them, including the most suggested causative mechanisms for these conditions. Expand