Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

In this paper, we report three patients with severe palmoplantar keratoderma associated with ichthyosis and sensorineural deafness. Biallelic mutations were found in VPS33B, encoding VPS33B, a Sec1/Munc18 family protein that interacts with Rab11a and Rab25 proteins and is involved in trafficking of...

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Detalhes bibliográficos
Publicado no:J Invest Dermatol
Main Authors: Gruber, Robert, Rogerson, Clare, Windpassinger, Christian, Banushi, Blerida, Straatman-Iwanowska, Anna, Hanley, Joanna, Forneris, Federico, Strohal, Robert, Ulz, Peter, Crumrine, Debra, Menon, Gopinathan K., Blunder, Stefan, Schmuth, Matthias, Müller, Thomas, Smith, Holly, Mills, Kevin, Kroisel, Peter, Janecke, Andreas R., Gissen, Paul
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2017
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Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5358661/
https://ncbi.nlm.nih.gov/pubmed/28017832
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.jid.2016.12.010
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