Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma : More Than a Random Association?
Joint Authors
Longinotti, Maurizio
Cottoni, Francesca
Poddie, Fausto
Cucca, Francesco
Galleu, Antonio
Contini, Salvatore
Fozza, Claudio
Source
Issue
Vol. 2011, Issue 2011 (31 Dec. 2011), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2011-08-10
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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 developed a T-cell lymphoma so far never described in this group of patients.
American Psychological Association (APA)
Fozza, Claudio& Poddie, Fausto& Contini, Salvatore& Galleu, Antonio& Cottoni, Francesca& Longinotti, Maurizio…[et al.]. 2011. Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma : More Than a Random Association?. Case Reports in Hematology،Vol. 2011, no. 2011, pp.1-3.
https://search.emarefa.net/detail/BIM-503042
Modern Language Association (MLA)
Fozza, Claudio…[et al.]. Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma : More Than a Random Association?. Case Reports in Hematology No. 2011 (2011), pp.1-3.
https://search.emarefa.net/detail/BIM-503042
American Medical Association (AMA)
Fozza, Claudio& Poddie, Fausto& Contini, Salvatore& Galleu, Antonio& Cottoni, Francesca& Longinotti, Maurizio…[et al.]. Keratitis-Ichthyosis-Deafness Syndrome, Atypical Connexin GJB2 Gene Mutation, and Peripheral T-Cell Lymphoma : More Than a Random Association?. Case Reports in Hematology. 2011. Vol. 2011, no. 2011, pp.1-3.
https://search.emarefa.net/detail/BIM-503042
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-503042
