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

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

CLINICAL AND EXPERIMENTAL DERMATOLOGY, sa.11, ss.1485-1488, 2024 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Basım Tarihi: 2024
Doi Numarası: 10.1093/ced/llae215
Dergi Adı: CLINICAL AND EXPERIMENTAL DERMATOLOGY
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, Academic Search Premier, CAB Abstracts, EMBASE, Veterinary Science Database
Sayfa Sayıları: ss.1485-1488
Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
Ankara Üniversitesi Adresli: Evet

Özet

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.