2020
DOI: 10.1111/pde.14076
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A novel pathogenic FERMT1 variant in four families with Kindler syndrome in Argentina

Abstract: Background Kindler syndrome is a rare genodermatosis. Major clinical criteria include acral blistering in infancy and childhood, progressive poikiloderma, skin atrophy, abnormal photosensitivity, and gingival fragility. Methods FERMT1 gene was sequenced in 5 patients with a clinical diagnosis of Kindler syndrome. Results We report a novel pathogenic variant detected in four unrelated families of Paraguayan origin, where one nucleotide deletion in FERMT1 gene (c.450delG) is predicted to cause a frameshift mutat… Show more

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Cited by 3 publications
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“…FERMT1 is a newly discovered adhesion protein belonging to the kindlin family, 5 7 which consists of Ezrin, Radisin, moesin and a pleckstrin homology domain, and a pleckstrin homology domain. FERMT1 is a mutant gene associated with Kindler syndrome.…”
Section: Introductionmentioning
confidence: 99%
“…FERMT1 is a newly discovered adhesion protein belonging to the kindlin family, 5 7 which consists of Ezrin, Radisin, moesin and a pleckstrin homology domain, and a pleckstrin homology domain. FERMT1 is a mutant gene associated with Kindler syndrome.…”
Section: Introductionmentioning
confidence: 99%