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., ...Daha Fazla

ORPHANET JOURNAL OF RARE DISEASES, cilt.9, 2014 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 9
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1186/1750-1172-9-60
  • Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES

Özet

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.