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Article

Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene.

Pediatrics international : official journal of the Japan Pediatric Society - 1 Apr 2013

Koshida Shigeki, Tsukamura Atsushi, Yanagi Takahide, Nakahara Sayuri, Takeuchi Yoshihiro, Kato Takashi, Tanaka Toshihiro, Nakano Hajime, Shimizu Hiroshi

Abstract excerpt

Epidermolysis bullosa (EB) is a group of inherited mechanobullous skin disease. The dystrophic EB (DEB), one subtype of EB, is inherited in an autosomal dominant DEB or in an autosomal recessive (RDEB). DEB is caused by mutations in the COL7A1 gene encoding type VII collagen, the major component of anchoring fibrils. Over 300 pathogenic mutations have been detected within COL7A in DEB. Patients with the...

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Identifiers

PMID: 23679163
DOI: 10.1111/j.1442-200X.2012.03638.x

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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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