The ermine phenotype: Pigmentary‐hearing loss heterogeneity
- 1 August 1988
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 30 (4) , 945-952
- https://doi.org/10.1002/ajmg.1320300412
Abstract
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 pigment loss‐sensorineural hearing loss syndromes is made.Keywords
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