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Chinese Journal of Clinicians(Electronic Edition) ›› 2017, Vol. 11 ›› Issue (20): 2323-2326. doi: 10.3877/cma.j.issn.1674-0785.2017.20.006

Special Issue:

• Review • Previous Articles     Next Articles

Clinical features and genetic mechanisms of generalized lentiginosis

Lulu Wei1, Hongzhou Cui2, Shuping Guo2,()   

  1. 1. Graduate School of Shanxi Medical University, Taiyuan 030000, China
    2. Department of Dermatology, the First Hospital of Shanxi Medical University, Taiyuan 030001, China
  • Received:2017-03-06 Online:2017-10-15 Published:2017-10-15
  • Contact: Shuping Guo
  • About author:
    Corresponding author: Guo Shuping, Email:

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

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