Molecular and phenotypic evaluation of a novel germline TMEM127 mutation with an uncommon clinical presentation

Endocr Relat Cancer. 2017 Nov;24(11):L79-L82. doi: 10.1530/ERC-17-0359. Epub 2017 Aug 30.
No abstract available

Publication types

  • Case Reports
  • Evaluation Study
  • Letter
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Adrenal Gland Neoplasms / genetics*
  • Adrenal Gland Neoplasms / pathology
  • Carcinoma, Renal Cell / genetics*
  • Carcinoma, Renal Cell / pathology
  • Female
  • Germ-Line Mutation*
  • Humans
  • Kidney Neoplasms / genetics*
  • Kidney Neoplasms / pathology
  • Membrane Proteins / genetics*
  • Middle Aged
  • Phenotype
  • Pheochromocytoma / genetics*
  • Pheochromocytoma / pathology

Substances

  • Membrane Proteins
  • TMEM127 protein, human