Article
Cathepsin K analysis in a pycnodysostosis cohort: demographic, genotypic and phenotypic features.
Orphanet journal of rare diseases - 26 Apr 2014
Arman Ahmet, Bereket Abdullah, Coker Ajda, Kiper Pelin Özlem Simşek, Güran Tülay, Ozkan Behzat, Atay Zeynep, Akçay Teoman, Haliloglu Belma, Boduroglu Koray, Alanay Yasemin, Turan Serap
Abstract excerpt
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. METHODS: Seven exons and exon/intron boundaries of CTSK gene for the children and their families were amplified with PCR and sequenced. Sixteen patients from 14 families...
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