Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

@article{Farrer1992WaardenburgS,
  title={Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.},
  author={Lindsay A. Farrer and Kenneth M. Grundfast and Jean Amos and Kathleen Shaver Arnos and J. H. Jr. Asher and Peter Beighton and Scott R. Diehl and J{\"o}rgen Fex and Catherine Foy and Thomas B Friedman},
  journal={American journal of human genetics},
  year={1992},
  volume={50 5},
  pages={902-13}
}
Previous studies have localized the gene for Waardenburg syndrome (WS) type I to the distal portion of chromosome 2q, near the ALPP locus. We pooled linkage data obtained from 41 WS type I and 3 WS type II families which were typed for six polymorphic loci on chromosome 2q in order to refine the location of the WS locus (WS1) and evaluate the extent of genetic heterogeneity. In the course of this work, we developed diagnostic criteria for genetic and phenotypic studies. Our findings, based on… CONTINUE READING

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