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

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

ORPHANET JOURNAL OF RARE DISEASES, vol.9, 2014 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 9
  • Publication Date: 2014
  • Doi Number: 10.1186/1750-1172-9-60
  • Journal Name: ORPHANET JOURNAL OF RARE DISEASES
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: Cathepsin K, Pycnodysostosis, Fracture, Craniosynostosis, Arnold Chiari malformation, CONVERTING-ENZYME GENE, DELETION POLYMORPHISM, LA PYCNODYSOSTOSE, MOBILE ELEMENTS, MUTATIONS, CRANIOSYNOSTOSIS, ACTIVATION, DISEASE, GENOME
  • Hacettepe University Affiliated: Yes

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.