Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.

  title={Involvement of the MEN1 gene locus in familial isolated hyperparathyroidism.},
  author={Andrea C. Villablanca and Wassif Samuel Wassif and Thomas W. Smith and Anders H{\"o}{\"o}g and Outi Vierimaa and Moustapha Kassem and Trisha Dwight and Lars Georg Forsberg and Quan Du and Diana Louise Learoyd and Keston Jones and Steve Stranks and Claes Juhlin and Bin Tean Teh and Tobias Carling and Bruce Robinson and Catharina Larsson},
  journal={European journal of endocrinology},
  volume={147 3},
BACKGROUND Familial isolated hyperparathyroidism (FIHP) is a hereditary disorder characterised by uni- or multiglandular parathyroid disease. A subset of families are likely to be genetic variants of other familial tumour syndromes in which PHPT is the main feature, for example multiple endocrine neoplasia type 1 (MEN 1) and the hyperparathyroidism-jaw tumour syndrome (HPT-JT). OBJECTIVE To investigate seven families diagnosed with FIHP, each with two to eight affected family members, to… CONTINUE READING