Literature DB >> 11862187

Exclusion of COL7A1 mutation in Kindler syndrome.

Kana Yasukawa1, Kazuko C Sato-Matsumura, James McMillan, Kikuo Tsuchiya, Hiroshi Shimizu.   

Abstract

We describe a patient with Kindler syndrome with an 18-year follow-up who was initially misdiagnosed as suffering from dystrophic epidermolysis bullosa. The patient's skin showed broad reticulate labeling for collagen VII and reduplication of the lamina densa. Screening of this patient's DNA excluded any pathogenic COL7A1 mutations.

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Year:  2002        PMID： 11862187     DOI： 10.1067/mjd.2002.117523

Source DB:  PubMed          Journal:  J Am Acad Dermatol        ISSN： 0190-9622            Impact factor:   11.527


  2 in total

Review 1.  Kindler syndrome and periodontal disease: review of the literature and a 12-year follow-up case.

Authors:  Colin B Wiebe; Giorgio Petricca; Lari Häkkinen; Guoqiao Jiang; Chuanyue Wu; Hannu S Larjava
Journal:  J Periodontol       Date:  2008-05       Impact factor: 6.993

2.  Kindler'S syndrome: a case series of three Indian children.

Authors:  Sudip Kumar Ghosh; Debabrata Bandyopadhyay; Jayasri Das; Gobinda Chatterjee; Somenath Sarkar
Journal:  Indian J Dermatol       Date:  2010-10       Impact factor: 1.494
  2 in total

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