Diagnostic challenges in a family with dominant dystrophic epidermolysis bullosa and isolated hereditary nail disorder: paternal gonosomal mosaicism for COL7A1 variant and maternal RSPO4 variant


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ÖKTEM A., ÖZAYDIN B., GÜNDÜZ K., GÖKPINAR İLİ E., ŞANLI H., KAPLAN İ., ...More

CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2024 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Publication Date: 2024
  • Doi Number: 10.1093/ced/llae215
  • Journal Name: CLINICAL AND EXPERIMENTAL DERMATOLOGY
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, Veterinary Science Database
  • Ankara University Affiliated: Yes

Abstract

This case series aims to serve as an example for similar cases of genodermatoses and to highlight the importance of detailed genetic analysis guided by comprehensive medical history in reaching a diagnosis.