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

ARMAN, AHMET; BEREKET, ABDULLAH; Coker, Ajda; Kiper, Pelin; GÜRAN, TÜLAY; Ozkan, Behzat; Atay, Zeynep; Akcay, Teoman; HALİLOĞLU, BELMA; BODUROĞLU, OSMAN; ALANAY, YASEMİN; Turan, Serap

doi:10.1186/1750-1172-9-60

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

ARMAN A., BEREKET A., Coker A., Kiper P. O. S., GÜRAN T., Ozkan B., ...Daha Fazla

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

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
Acıbadem Mehmet Ali Aydınlar 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.