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- W3032081622 abstract "Generalized lentiginosis is an autosomal dominant inherited disorder caused by mutations in the PTPN11, RAF1, BRAF, and SASH1 genes. Its characteristic features include lentigines with cardiovascular disease, mental retardation, neurological deafness, craniofacial dysmorphism, gonadal hypoplasia, short physique, and other abnormalities. In this article, we review the progress in the understanding of the genetics of generalized lentiginosisi.Key words: Lentiginosis; Genes; Mutations; Molecular biology" @default.
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- W3032081622 date "2017-10-15" @default.
- W3032081622 modified "2023-09-29" @default.
- W3032081622 title "Clinical features and genetic mechanisms of generalized lentiginosis" @default.
- W3032081622 doi "https://doi.org/10.3877/cma.j.issn.1674-0785.2017.20.006" @default.
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