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

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

Abstract 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,...

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Bibliographic Details
Main Authors: Fatma Mabrouk Ali, Jieyu Zhou, Mingyan Wang, Qiuxia Wang, Lulu Sun, Mansour Maulid Mshenga, Hongyan Lu
Format: Article
Language:English
Published: BMC 2024-04-01
Series:BMC Pediatrics
Subjects:
Epidermolysis bullosa
Blisters
Genetic testing
Collagen 7A1
Keratin 14
Online Access:https://doi.org/10.1186/s12887-024-04715-0

Internet

https://doi.org/10.1186/s12887-024-04715-0

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