A connexin gene ( gjb3 ) mutation in a chinese family with erythrokeratodermia variabilis, ichthyosis and nonsyndromic hearing loss: case report and mutations update

HIGHLIGHTS

• who: GJB and colleagues from the Xinhua Hospital Affiliated to Shanghai Jiao Tong School of Medicine, China have published the Article: A Connexin Gene ( GJB3 ) Mutation in a Chinese Family With Erythrokeratodermia Variabilis, Ichthyosis and Nonsyndromic Hearing Loss: Case Report and Mutations Update, in the Journal: (JOURNAL)
• what: The authors report a Chinese family with a missense mutation of GJB3 associated with different clinical symptoms covering EKV, ichthyosis and NSHL.
• future: One possible explanation is that other connexin protein may make up the function loss of Cx31 in skin or cochlea while more . . .
  

   

  

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