A novel autosomal recessive GJB2-associated disorder: Ichthyosis follicularis, bilateral severe sensorineural hearing loss and palmoplantar keratoderma

Ichthyosis follicularis, a distinct cutaneous entity reported in combination with atrichia, and photophobia has been associated with mutations in MBTPS2. We sought the genetic cause of a novel syndrome of ichthyosis follicularis, bilateral severe sensorineural hearing loss and punctate palmoplantar...

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Publicado no:Hum Mutat
Main Authors: Youssefian, Leila, Vahidnezhad, Hassan, Saeidian, Amir Hossein, Mahmoudi, Hamidreza, Karamzadeh, Razieh, Kariminejad, Ariana, Huang, Jianhe, Li, Leping, Jannace, Thomas F., Fortina, Paolo, Zeinali, Sirous, White, Thomas W., Uitto, Jouni
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6481180/
https://ncbi.nlm.nih.gov/pubmed/30431684
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.23686
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