International evaluation of unrecognizably uglifying human faces in late and severe secondary hyperparathyroidism in chronic kidney disease. Sagliker syndrome. A unique catastrophic entity, cytogenetic studies for chromosomal abnormalities, calcium-sensing receptor gene and GNAS1 mutations. Striking

@article{Yildiz2012InternationalEO,
  title={International evaluation of unrecognizably uglifying human faces in late and severe secondary hyperparathyroidism in chronic kidney disease. Sagliker syndrome. A unique catastrophic entity, cytogenetic studies for chromosomal abnormalities, calcium-sensing receptor gene and GNAS1 mutations. Striking},
  author={Ismail Yildiz and Yahya Sağl{\'i}ker and Osman Demirhan and Erdal Tunç and Nihal Inandiklioğlu and Deniz Tasdemir and Vidya N Acharya and Ling Zhang and Ovidia Golea and Alaa Sabry and Dhananjay S Ookalkar and Cristina Căpuşă and Dana Radulescu and Liliana G{\^a}rneaţă and Gabriel M. Mircescu and H{\'e}di Ben Maiz and Cheng Hsu Chen and Jorge Prado Rome and Mansour Benzegoutta and Nuray Paylar and Kamil Eyuboglu and Ersin Karatepe and Mustafa Esenturk and Onder Yavaşcan and Alicza Grzegorzevska and Valery Shilo and Mitra Mahdavi Mazdeh and Ramos Carillo Francesco and Zaghloul Gouda and Siddik Momin Adam and Idris Emir and Faith Oçal and Erol Usta and Necati Kiralp and Cemal Sagliker and Piril Sagliker Ozkaynak and Hasan Sabit Sagliker and Mahmoud Bassuoni and Oktay Sekin},
  journal={Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney Foundation},
  year={2012},
  volume={22 1},
  pages={157-61}
}
Hypotheses explaining pathogenesis of secondary hyperparathyroidism (SH) in late and severe CKD as a unique entity called Sagliker syndrome (SS) are still unclear. This international study contains 60 patients from Turkey, India, Malaysia, China, Romania, Egypt, Tunisia, Taiwan, Mexico, Algeria, Poland, Russia, and Iran. We examined patients and first degree relatives for cytogenetic chromosomal abnormalities, calcium sensing receptor (Ca SR) genes in exons 2 and 3 abnormalities and GNAS1 genes… CONTINUE READING
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