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., et al.

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

  • 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.