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Article

Bart's syndrome in a family affected three consecutive generations with mutation c.6007G>A in COL7A1.

The Journal of dermatology - 1 Aug 2018

Chen Zhiming, Bu Wenbo, Feng Suying, Wang Hongsheng

Abstract excerpt

Bart's syndrome (BS), characterized by aplasia cutis congenita (ACC, also called congenital localized absence of skin) and epidermolysis bullosa (EB), is diagnosed clinically based on the disorder's unique signs and symptoms. We report the case of a family, three members of which presented with ACC at birth and one had blisters on the mucous membranes. The patient was treated conservatively with topical...

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Identifiers

PMID: 29722429
DOI: 10.1111/1346-8138.14352

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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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Bart's syndrome in a family affected three consecutive generations with mutation c.6007G>A in COL7A1.PMID 29722429Read ↗

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Whole exome sequencing identified a novel compound heterozygous variation in COL7A1 gene causing dystrophic epidermolysis bullosa.Semantic proximity Read ↗

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