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Review
. 1988 Aug;30(4):945-52.
doi: 10.1002/ajmg.1320300412.

The ermine phenotype: pigmentary-hearing loss heterogeneity

N J O'Doherty  1 , R J Gorlin
Affiliations
Review

The ermine phenotype: pigmentary-hearing loss heterogeneity

N J O'Doherty et al. Am J Med Genet. 1988 Aug.

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.

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