RHBDF2 Mutations Are Associated with Tylosis, a Familial Esophageal Cancer Syndrome

Tylosis esophageal cancer (TOC) is an autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk of esophageal cancer. We have previously localized the TOC locus to a small genomic interval within chromosomal region 17q25. Using a targeted...

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Auteurs principaux: Blaydon, Diana C., Etheridge, Sarah L., Risk, Janet M., Hennies, Hans-Christian, Gay, Laura J., Carroll, Rebecca, Plagnol, Vincent, McRonald, Fiona E., Stevens, Howard P., Spurr, Nigel K., Bishop, D. Timothy, Ellis, Anthony, Jankowski, Janusz, Field, John K., Leigh, Irene M., South, Andrew P., Kelsell, David P.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2012
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Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC3276661/
https://ncbi.nlm.nih.gov/pubmed/22265016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.12.008
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