Genotype and phenotype correlations in 441 patients with epidermolysis bullosa from China.
Fuying ChenRuoqu WeiDan DengXue ZhangYu CaoChaolan PanYumeng WangQiaoyu CaoJianbo WangMing ZengLinting HuangYan GuZhirong YaoQian LiuPublished in: Journal of the European Academy of Dermatology and Venereology : JEADV (2022)
This study reveals the general rules governing genotype-phenotype correlations, rare phenotypes and complex genotypes. Collectively, mutation analysis in different forms of EB provides the basis for improved subclassification with accurate genetic counselling and for prenatal diagnosis.