Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series.

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Title: Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series.
Authors: Mariath LM; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Santin JT; Postgraduate Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil., Frantz JA; DEBRA Brasil, Blumenau, Brazil., Doriqui MJR; Section of Medical Genetics, Hospital Infantil Dr. Juvêncio Mattos, São Luís, Brazil., Schuler-Faccini L; Postgraduate Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Instituto Nacional de Ciência e Tecnologia de Genética Médica Populacional (INaGeMP), Porto Alegre, Brazil., Kiszewski AE; Section of Dermatology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, Brazil.; Section of Pediatric Dermatology, Hospital da Criança Santo Antônio, Irmandade da Santa Casa de Misericórdia de Porto Alegre, Porto Alegre, Brazil.
Source: Clinical genetics [Clin Genet] 2020 Jul; Vol. 98 (1), pp. 99-101. Date of Electronic Publication: 2020 May 07.
Publication Type: Case Reports; Letter; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1399-0004
DOI:10.1111/cge.13762