Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report

BACKGROUND: Keratitis-Ichthyosis-Deafness (KID) syndrome is a rare condition characterized by pre-lingual sensorineural deafness with skin hyperkeratinization. The primary cause of the disease is a loss-of-function mutation in the GJB2 gene. Mutations in Argentinean patients have not been described....

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Publicado en:BMC Med Genet
Autores principales: Dalamón, Viviana Karina, Buonfiglio, Paula, Larralde, Margarita, Craig, Patricio, Lotersztein, Vanesa, Choate, Keith, Pallares, Norma, Diamante, Vicente, Elgoyhen, Ana Belén
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2016
Materias:
Case Report
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4855445/
https://ncbi.nlm.nih.gov/pubmed/27141831
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-016-0298-y
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