https://www.selleckchem.com/pr....oducts/gambogic-acid
We report two Hong Kong children with severe generalized epidermolysis bullosa simplex (EBS), the most severe form of EBS, without a family history of EBS. EBS is a rare genodermatosis usually inherited in an autosomal dominant fashion although rare autosomal recessive cases have been reported. Genetic studies in these patients showed that the first case was due to a novel de novo heterozygous variant, c.377TG (NM_000526.5 (c.377TG, p.Leu126Arg)) in the KRT14 gene and the second case was due to a rare de novo heterozygous
إعجاب
علق
شارك
