The ermine phenotype: pigmentary-hearing loss heterogeneity.

  title={The ermine phenotype: pigmentary-hearing loss heterogeneity.},
  author={N J O'Doherty and Robert J. Gorlin},
  journal={American journal of medical genetics},
  volume={30 4},
The term ermine phenotype has been chosen to describe patients with white hair with black tufts. The patients also have sensorineural hearing loss. This rare phenotype may come about either by failure of migration of melanocytes or by an autoimmune mechanism. Examples of each are cited. The authors describe a possible third type. Comparison with other… CONTINUE READING