Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma: More Than a Random Association?

Keratitis-ichthyosis-deafness (KID) syndrome is a rare congenital disorder characterized by skin lesions, neurosensorial hypoacusia, and keratitis, usually due to the c.148G → A mutation involving the connexin 26 gene. We report on a KID patient who showed the atypical c.101T → C mutation and develo...

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Autori principali: Fozza, Claudio, Poddie, Fausto, Contini, Salvatore, Galleu, Antonio, Cottoni, Francesca, Longinotti, Maurizio, Cucca, Francesco
Natura: Artigo
Lingua:Inglês
Pubblicazione: Hindawi Publishing Corporation 2011
Soggetti:
Case Report
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3420635/
https://ncbi.nlm.nih.gov/pubmed/22937313
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2011/848461
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