Download Atlas of Genodermatoses by Ruggero Caputo;Gianluca Tadini PDF

By Ruggero Caputo;Gianluca Tadini

A lavishly illustrated consultant to just about two hundred inherited illnesses of the outside, hair, and nails. each one access comprises synonyms, age of onset, scientific findings, issues, path, laboratory findings, prognosis, treatment, and key references, including as much as way over only a choice of photos. as well as being a medical primer, this can be additionally a piece of clinical examine and includes the 1st revealed description of 2 new syndromes. The fast-moving global of genetic learn implies that the most recent genetic correlations, integrated the following, render earlier texts old-fashioned. All experts in dermatology and pediatrics should still locate this a useful front-line source within the sanatorium.

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A novel homozygous nonsense mutation in the LAMC2 gene in patients with the Herlitz junctional epidermolysis bullosa. Hum Mol Genet 1994; 3:1909–10 Brown TA, Gil SG, Sybert VP, et al. Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia. J Invest Dermatol 1996; 107:384–91. Erratum in J Invest Dermatol 1997; 108:237 Cambiaghi S, Brusasco A, Restano L, et al. Epidermolysis bullosa pruriginosa. Dermatology 1997; 195:65–8 Chavanas S, Gache Y, Tadini G, et al.

Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts. Hum Mutat 1999; 13:439–52 Tadini G, Ermacora E, Cambiaghi S, et al. Positive response to 5TH-2 antagonists in a family affected by epidermolysis bullosa Dowling-Meara type. Dermatology 1993; 186:80 Tadini G, Kanitakis J, Cavalli R, et al. Altered expression of a new antigen of the dermal-epidermal junction (NU-T2 DEJ Ag) in junctional epidermolysis bullosa.

J Invest Dermatol 2002; 119:1456–62 Gardella R, Nuytinck L, Barlati S, et al. Characterization of mutations leading to recessive dystrophic epidermolysis bullosa and Marfan syndrome in a single patient. Clin Exp Dermatol 2001; 26:710–13 Gardella R, Zoppi N, Ferraboli S, et al. Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts. Hum Mutat 1999; 13:439–52 Tadini G, Ermacora E, Cambiaghi S, et al.

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