GJB6
MIM.604418
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, Lemaître 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#