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

Clin Exp Dermatol. 2024 Oct 24;49(11):1485-1488. doi: 10.1093/ced/llae215.

Authors

Ayşe Öktem¹, Berna Özaydın², Kaan Gündüz¹, Ezgi Gökpınar İli², Hatice Şanlı¹, İbrahim Kaplan², Nüket Yürür Kutlay²

Affiliations

¹ Ankara University Faculty of Medicine, Department of Dermatology, Ankara, Turkey.
² Ankara University Faculty of Medicine, Department of Medical Genetics, Ankara, Turkey.

PMID: 38828627
DOI: 10.1093/ced/llae215

No abstract available