Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene

Research output: Contribution to journalArticlepeer-review

Authors

  • Felix G Riepe
  • Wiebke Ahrens
  • Regina Fölster-Holst
  • Jochen Brasch
  • Wolfgang G Sippell
  • Olaf Hiort
  • Carl-Joachim Partsch

Abstract

To clarify the molecular defect for the clinical finding of congenital hypothyroidism combined with the manifestation of calcinosis cutis in infancy.

Details

Original languageEnglish
Pages (from-to)515-9
Number of pages5
JournalEuropean Journal of Endocrinology
Volume152
Issue number4
Publication statusPublished - 2005