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

Arman A., Bereket A., Çoker A., Şimşek Kiper P. Ö., Güran T., Özkan B., ...Daha Fazla

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

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 9
  • Basım Tarihi: 2014
  • Doi Numarası: 10.1186/1750-1172-9-60
  • Dergi Adı: ORPHANET JOURNAL OF RARE DISEASES
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Anahtar Kelimeler: Cathepsin K, Pycnodysostosis, Fracture, Craniosynostosis, Arnold Chiari malformation, CONVERTING-ENZYME GENE, DELETION POLYMORPHISM, LA PYCNODYSOSTOSE, MOBILE ELEMENTS, MUTATIONS, CRANIOSYNOSTOSIS, ACTIVATION, DISEASE, GENOME
  • Marmara Üniversitesi Adresli: Evet

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.