Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.

  title={Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.},
  author={Xue Zong Liu and Valerie E. Newton and Andrew P. Read},
  journal={American journal of medical genetics},
  volume={55 1},
The Waardenburg syndrome (WS) consists of at least two distinct autosomal dominant hereditary disorders. WS Type I has been mapped to the distal part of chromosome 2q and the gene identified as PAX3. Other gene(s) are responsible for WS Type II. Mapping WS Type II requires accurate diagnosis within affected families. To establish diagnostic criteria for WS Type II, 81 individuals from 21 families with Type II WS were personally studied, and compared with 60 personally studied patients from 8… CONTINUE READING


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