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Familial Brachydactyly with Variable Expression in Three Family Members

  • Ankur Singh
  • Rajniti Prasad
  • Om Prakash Mishra
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Notes

Contributions

AS & RP collected the data. AS conceptualized the idea and wrote the manuscript and is first author. OPM critically analysed the manuscript and will act as guarantor for this paper.

Compliance with Ethical Standards

Conflict of Interest

None.

References

  1. 1.
    Bell J. On brachydactyly and symphalangism. In: Penrose LS, editor. Treasury of Human Inheritance, vol. 5. London: Cambridge University Press; 1951. p. 1–31.Google Scholar
  2. 2.
    Haws DV. Inherited brachydactyly and hypoplasia of the bones of the extremities. Ann Hum Genet. 1963;26:201–11.CrossRefPubMedGoogle Scholar
  3. 3.
    Burgess RC. Brachydactyly type C. J Hand Surg Am. 2001;26:31–9.CrossRefPubMedGoogle Scholar
  4. 4.
    Polinkovsky A, Robin NH, Thomas JT, et al. Mutations in CDMP1 cause autosomal dominant brachydactyly type C. Nat Genet. 1997;17:18–9.CrossRefPubMedGoogle Scholar
  5. 5.
    Everman DB, Bartels CF, Yang Y, et al. The mutational spectrum of brachydactyly type C. Am J Med Genet. 2002;112:291–6.CrossRefPubMedGoogle Scholar

Copyright information

© Dr. K C Chaudhuri Foundation 2018

Authors and Affiliations

  • Ankur Singh
    • 1
  • Rajniti Prasad
    • 2
  • Om Prakash Mishra
    • 2
  1. 1.Genetic Clinic, Department of Pediatrics, Institute of Medical SciencesBanaras Hindu UniversityVaranasiIndia
  2. 2.Department of Pediatrics, Institute of Medical SciencesBanaras Hindu UniversityVaranasiIndia

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