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Article

Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.

BMC pediatrics - 5 Apr 2024

Ali Fatma Mabrouk, Zhou Jieyu, Wang Mingyan, Wang Qiuxia, Sun Lulu, Mshenga Mansour Maulid, Lu Hongyan

Abstract excerpt

EPIDERMOLYSIS: Bullosa is a rare hereditary skin condition that causes blisters. Genes encoding structural proteins at or near the dermal-epidermal junction are mutated recessively or dominantly, and this is the primary cause of EB. Herein, two Chinese boys were diagnosed with the condition, each with a different variant in a gene that serves as a reference for EB genetic counseling. Skincare significantly...

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Identifiers

PMID: 38580989
DOI: 10.1186/s12887-024-04715-0
PMCID: PMC10996244

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