Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features


ARMAN A., BEREKET A., ÇOKER A., ŞİMŞEK KİPER P. Ö. , GÜRAN T., ÖZKAN B., ...More

ORPHANET JOURNAL OF RARE DISEASES, vol.9, 2014 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 9
  • Publication Date: 2014
  • Doi Number: 10.1186/1750-1172-9-60
  • Title of Journal : ORPHANET JOURNAL OF RARE DISEASES

Abstract

Background: To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatric genetics clinics.