Novel and Recurrent FERMT1 Gene Mutations in Kindler Syndrome

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Kindler Syndrome with Severe Intestinal Involvement: A 31-year Follow-up

By Shimizu Satoko   Nishie Wataru   Tsuchiya Kikuo   Inokuma Daisuke   Koguchi-Yoshioka Hanako   Kikuchi Kazuhiro   Motoya Satoshi   Nakamura Hideki   Shimizu Hiroshi  

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Lipoid Proteinosis: Identification of Two Novel Mutations in the Human ECM-1 Gene and Lack of Genotype-Phenotype Correlation

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Coincident Two Mutations and One Single Nucleotide Polymorphism of the PTCH1 Gene in a Family with Naevoid Basal Cell Carcinoma Syndrome

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Acta Dermato-Venereologica, Vol. 88, Iss. 6, 2008-11 ,pp. : 635-636

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Connexin 26 (GJB2) Mutations in Two Swedish Patients with Atypical Vohwinkel (Mutilating Keratoderma plus Deafness) and KID Syndrome Both Extensively Treated with Acitretin

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