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Autor:
Abigail Y. T. Loh, Sanja Špoljar, Granville Y. W. Neo, Nathalie Escande‐Beillard, Marc Leushacke, Monique N. H. Luijten, Byrappa Venkatesh, Carine Bonnard, Maurice A. M. Steensel, Henning Hamm, Andrew Carmichael, Neil Rajan, Thomas J. Carney, Bruno Reversade
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 188(6)
Huriez syndrome (HRZ, OMIM181600) is a rare genodermatosis characterized by scleroatrophic hands and feet, hypoplastic nails, palmoplantar keratoderma, and predisposition to cutaneous squamous cell carcinoma (cSCC). We report herein three HRZ familie