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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Fozza, Claudio, Poddie, Fausto, Contini, Salvatore, Galleu, Antonio, Cottoni, Francesca, Longinotti, Maurizio, Cucca, Francesco
Médium: Artigo
Jazyk:Inglês
Vydáno: Hindawi Publishing Corporation 2011
Témata:
Case Report
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky