Lv11
6 积分 2025-08-06 加入
Two families with Greither's syndrome caused by a keratin 1 mutation
1小时前
待确认
Clinical and genetic findings in 13 Chinese children with keratinopathic ichthyosis
1小时前
已完结
Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
1小时前
已完结
The variant c.1670G>A in the SREBF1 gene is associated with unusual clinical manifestations of IFAP syndrome
1个月前
已完结
Rare subtypes of epidermolysis bullosa: three case reports and their pedigree analysis
2个月前
已关闭
KRT5 gene mutation-induced epidermolysis bullosa simplex with mottled pigmentation in a family
2个月前
已关闭
Epidermolysis Bullosa Simplex with Mottled Pigmentation and Migratory Circinate Erythema: Distinct Subtypes or a Continuum?
2个月前
已完结
Mutation analysis of the KRT5 gene in a Chinese pedigree with Dowling-Degos disease
2个月前
已关闭
Genetic variation analysis in three cases of piebaldism and analysis of the genotype-phenotype relationship
3个月前
已关闭
Regional differences in the prevalence of generalized pustular psoriasis in Japan
3个月前
已完结