Genetic and physical mapping of the McKusick-Kaufman syndrome.

@article{Stone1998GeneticAP,
  title={Genetic and physical mapping of the McKusick-Kaufman syndrome.},
  author={Deborah L. Stone and Richa Agarwala and Alejandro A. Sch{\"a}ffer and J. L. Weber and D. A. Vaske and Tsukasa Oda and Settara C Chandrasekharappa and Clair A. Francomano and Leslie G. Biesecker},
  journal={Human molecular genetics},
  year={1998},
  volume={7 3},
  pages={475-81}
}
McKusick-Kaufman syndrome is a human developmental anomaly syndrome comprising mesoaxial or postaxial polydactyly, congenital heart disease and hydrometrocolpos. This syndrome is diagnosed most frequently in the Old Order Amish population and is inherited in an autosomal recessive pattern with reduced penetrance and variable expressivity. Homozygosity mapping and linkage analyses were conducted using two pedigrees derived from a larger pedigree published in 1978. The PedHunter software query… CONTINUE READING