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23. Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa. Tamai K; Ishida-Yamamoto A; Matsuo S; Iizuka H; Hashimoto I; Christiano AM; Uitto J; McGrath JA Lab Invest; 1997 Feb; 76(2):209-17. PubMed ID: 9042157 [TBL] [Abstract][Full Text] [Related]
24. The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. Youssefian L; Vahidnezhad H; Barzegar M; Li Q; Sotoudeh S; Yazdanfar A; Ehsani AH; Kajbafzadeh AM; Mozafari N; Ebrahimi Daryani N; Agha-Hosseini F; Zeinali S; Uitto J J Invest Dermatol; 2015 May; 135(5):1447-1450. PubMed ID: 25599393 [No Abstract] [Full Text] [Related]
25. [Importance of human genetics for dermatology]. Popchristov P Dermatol Monatsschr; 1971 Jan; 157(1):1-13. PubMed ID: 5096962 [No Abstract] [Full Text] [Related]
26. [Keratoses with granular degeneration and their relations to each other. I. Epidermolytic hyperkeratosis (erythrodermia congenitalis ichthyosiformis bullosa)]. Hadlich J; Linse R Dermatol Monatsschr; 1989; 175(7):409-17. PubMed ID: 2676625 [TBL] [Abstract][Full Text] [Related]
27. [ON THE CLINICAL PICTURE AND GENETICS OF DOMINANT DYSTROPHIC HEREDITARY EPIDERMOLYSIS BULLOSA]. SCHNYDER UW; EICHHOFF D Arch Klin Exp Dermatol; 1963 Dec; 218():62-90. PubMed ID: 14106978 [No Abstract] [Full Text] [Related]
35. Case of Kindler syndrome resulting from mutation in the FERMT1 gene. Wada M; Masuda K; Tsuruta D; Tamai K; Lai-Cheong JE; McGrath JA; Katoh N J Dermatol; 2012 Dec; 39(12):1057-8. PubMed ID: 22672060 [No Abstract] [Full Text] [Related]
36. A novel mutation in the FERMT1 gene in Turkish siblings with Kindler syndrome. Kartal D; Borlu M; Has C; Fölster-Holst R J Eur Acad Dermatol Venereol; 2016 Jul; 30(7):1233-5. PubMed ID: 25865288 [No Abstract] [Full Text] [Related]
37. Progress in molecular genetics of heritable skin diseases: the paradigms of epidermolysis bullosa and pseudoxanthoma elasticum. Uitto J; Pulkkinen L; Ringpfeil F J Investig Dermatol Symp Proc; 2002 Dec; 7(1):6-16. PubMed ID: 12518787 [TBL] [Abstract][Full Text] [Related]
38. [Autosomal dominant genetic dermatoses and their association with internal cancers]. Burgdorf WH; Worret WI Hautarzt; 1988 Jul; 39(7):413-8. PubMed ID: 3065288 [TBL] [Abstract][Full Text] [Related]