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[Transient bullous lesions - a case of de novo mutation in the COL7A1 gene in patient with Epidermolysis bullosa dystrophica].

Medycyna wieku rozwojowego - 1 Jan 2000

Sobczyńska-Tomaszewska Agnieszka, Wertheim-Tysarowska Katarzyna, Kosykowska Ewa, Kowalewski Cezary

Abstract excerpt

AIM: The aim of the study was the evaluation of clinical symptoms suggesting Epidermolysis bullosa dystrophica in a 5 years old boy and identification of an underlying molecular defect. MATERIAL AND METHODS: The patient was a 5 years old boy with the history of transient bullae and milla formation in the fi rst three years of life In the last two years such tendency has not been observed, with the exception of...

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PMID: 22002042

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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[Transient bullous lesions - a case of de novo mutation in the COL7A1 gene in patient with Epidermolysis bullosa dystrophica].PMID 22002042Read ↗

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Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.Semantic proximity Read ↗

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Novel COL7A1 mutation in a family with bullous dermolysis of the newborn: Phenotypic variability associated with a COL7A1 mutation within the same family.Semantic proximity Read ↗

A Case of Dominant Dystrophic Epidermolysis Bullosa with a G2043R Mutation in the Type VII Collagen Gene.Semantic proximity Read ↗

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