TURKISH JOURNAL OF MEDICAL SCIENCES, vol.47, no.1, pp.13-21, 2017 (SCI-Expanded)
Article / Article
TURKISH JOURNAL OF MEDICAL SCIENCES
Science Citation Index Expanded (SCI-EXPANDED), Scopus, TR DİZİN (ULAKBİM)
Sagliker syndrome, CaSR gene, chromosomal abnormalities, chronic kidney disease, nucleotide alterations, CHRONIC KIDNEY-DISEASE, HUMAN FACE APPEARANCE, SEVERE SECONDARY HYPERPARATHYROIDISM, IN-SITU HYBRIDIZATION, CHRONIC-RENAL-FAILURE, FAMILIAL HYPOCALCIURIC HYPERCALCEMIA, NEONATAL SEVERE HYPERPARATHYROIDISM, MESSENGER-RIBONUCLEIC-ACID, CA2+-SENSING RECEPTOR, JUVENILE NEPHRONOPHTHISIS
Recep Tayyip Erdoğan University Affiliated:
Background/aim: Sagliker syndrome (SS) develops as a continuation of chronic kidney disease and secondary hyperparathyroidism conditions. It was thought that there are some genetic predisposition factors leading to SS. The calcium-sensing receptor (CaSR) is essential for calcium homeostasis in the body. We aimed to examine SS patients for chromosome aberrations (CAs) and CaSR gene abnormalities in exons 2 and 3.