The ermine phenotype: pigmentary-hearing loss heterogeneity.

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.
AuthorsN J O'Doherty, R J Gorlin
JournalAmerican journal of medical genetics (Am J Med Genet) Vol. 30 Issue 4 Pg. 945-52 (Aug 1988) ISSN: 0148-7299 [Print] UNITED STATES
PMID3055988 (Publication Type: Case Reports, Journal Article, Review)
  • Adult
  • Female
  • Hearing Loss, Sensorineural (complications, genetics)
  • Humans
  • Phenotype
  • Pigmentation Disorders (complications, genetics)
  • Syndrome

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