Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa

Autor:	Yue, Yao, Kai, Yang, Ke-Yan, Qi, Lin-Xi, Zeng, Guo-Qiang, Zhang
Rok vydání:	2022
Předmět:	Cancer Research Immunology and Microbiology (miscellaneous) General Medicine
Zdroj:	Experimental and Therapeutic Medicine. 24
ISSN:	1792-1015 1792-0981
DOI:	10.3892/etm.2022.11663
Popis:	Inherited epidermolysis bullosa (IEB) represents a group of rare genetic dermatoses comprising various phenotypes ranging from severe cutaneous and extracutaneous involvement to mild cutaneous fragility. Pathogenic variants have been identified in at least 20 genes responsible for IEB. In the present study, six cases of epidermolysis bullosa were recruited and subjected to a combination of clinical and genetic analysis. The family history of each case was surveyed. Whole exome sequencing was performed to identify the causative variation. The six patients showed typical EB symptoms. In all cases, WES detected the diagnostic variations of the
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aedfb0ae0bdbb2d185f0e462996f62e https://doi.org/10.3892/etm.2022.11663 Zobrazit plný text záznamu