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 and promising missense mutations on the GNAS1 gene exons 1, 4, 10, 4.
Yildiz I, Sagliker Y, Demirhan O, Tunc E, Inandiklioglu N, Tasdemir D, Acharya V, Zhang L, Golea O, Sabry A, Ookalkar DS, Capusa C, Radulescu D, Garneata L, Mircescu G, Ben Maiz H, Chen CH, Prado Rome J, Benzegoutta M, Paylar N, Eyuboglu K, Karatepe E, Esenturk M, Yavascan O, Grzegorzevska A, Shilo V, Mazdeh MM, Francesco RC, Gouda Z, Adam SM, Emir I, Ocal F, Usta E, Kiralp N, Sagliker C, Ozkaynak PS, Sagliker HS, Bassuoni M, Sekin O.
Yildiz I, et al. Among authors: inandiklioglu n.
J Ren Nutr. 2012 Jan;22(1):157-61. doi: 10.1053/j.jrn.2011.10.030.
J Ren Nutr. 2012.
PMID: 22200434
Review.
