A Novel De novo Mutation of the SASH1 Gene in a Chinese Family with Multiple Lentigines

Acta Derm Venereol. 2017 Apr 6;97(4):530-531. doi: 10.2340/00015555-2575.
No abstract available

MeSH terms

  • Adult
  • Asian People / genetics
  • DNA Mutational Analysis
  • Female
  • Genetic Predisposition to Disease
  • Heredity
  • Heterozygote
  • Humans
  • LEOPARD Syndrome / diagnosis
  • LEOPARD Syndrome / ethnology
  • LEOPARD Syndrome / genetics*
  • LEOPARD Syndrome / radiotherapy
  • Lasers, Solid-State / therapeutic use
  • Low-Level Light Therapy / instrumentation
  • Male
  • Mutation, Missense*
  • Pedigree
  • Phenotype
  • Treatment Outcome
  • Tumor Suppressor Proteins / genetics*

Substances

  • SASH1 protein, human
  • Tumor Suppressor Proteins