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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(More)
BACKGROUND Multiple Sclerosis (MS) is a neurodegenerative disease. It involves inflammation and demyelination. Since cytokines play an important role in the development of MS, genes encoding cytokines such as the Interleukin (IL)-1 family are candidate genes for MS susceptibility. OBJECTIVE To determine the relationship between IL-1 gene family and MS in(More)
OBJECTIVE Isolated growth hormone deficiency (IGHD) is defined as a medical condition associated with growth failure due to insufficient production of GH or lack of GH action. Mutations in the gene encoding for GH-releasing hormone receptor (GHRHR) have been detected in patients with IGHD type IB. However, genetic defects on GHRHR causing IGHD in the(More)
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