Cohen 综合征合并新型 KRT9 基因突变导致表皮松解性掌足底角化症 : 一例罕见病例报告.
关键词: Cohen syndrome Epidermolytic palmoplantar keratoderma Genetic mutation KRT9 gene VPS13B gene
Mesh : Humans Keratoderma, Palmoplantar, Epidermolytic / complications genetics Microcephaly Intellectual Disability Mutation Keratin-9 / genetics
来 源: DOI:10.1016/j.asjsur.2023.08.206