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

ÖKTEM, AYŞE; ÖZAYDIN, BERNA; GÜNDÜZ, KAAN; GÖKPINAR İLİ, EZGİ; ŞANLI, HATİCE; KAPLAN, İBRAHİM; KUTLAY, NÜKET

doi:10.1093/ced/llae215

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)

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.