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GJB6
MIM.604418
connexin-30
Pathology
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)
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