Identification and characterization of a GLMN splice site variant in a family with glomuvenous malformations

Eur J Dermatol. 2020 Apr 1;30(2):179-181. doi: 10.1684/ejd.2020.3716.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Adolescent
  • Frameshift Mutation*
  • Genes, Dominant
  • Genetic Heterogeneity*
  • Glomus Tumor / genetics*
  • Glomus Tumor / pathology
  • Humans
  • Male
  • Paraganglioma, Extra-Adrenal / genetics*
  • Paraganglioma, Extra-Adrenal / pathology
  • Pedigree
  • Phenotype
  • RNA Splice Sites
  • Skin Neoplasms / genetics*
  • Skin Neoplasms / pathology

Substances

  • Adaptor Proteins, Signal Transducing
  • GLMN protein, human
  • RNA Splice Sites

Supplementary concepts

  • Glomus vagale tumors