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GJB6

MIM.604418

Wednesday 9 February 2005

Pathology

- germline mutations in

  • type 2 hidrotic ectodermal dysplasia (Clouston’s disease) (MIM.129500)
  • type 3 automal dominant nonsyndromic sensorineural deafness(DFNA3) (MIM.601544)
  • nonsyndromic prelingual deafness (MIM.220290)

References

- Lamartine J, Munhoz Essenfelder G, Kibar Z, Lanneluc I, Callouet E, Laoudj D, LemaĆ®tre G, Hand C, Hayflick SJ, Zonana J, Antonarakis S, Radhakrishna U, Kelsell DP, Christianson AL, Pitaval A, Der Kaloustian V, Fraser C, Blanchet-Bardon C, Rouleau GA, Waksman G. Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat Genet. 2000 Oct;26(2):142-4. PMID: 11017065