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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 Liu
Published 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.
Keyphrases
  • genome wide
  • high resolution
  • smoking cessation
  • dna methylation
  • men who have sex with men