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308 related items for PubMed ID: 29505567
1. Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3. Acar S, BinEssa HA, Demir K, Al-Rijjal RA, Zou M, Çatli G, Anık A, Al-Enezi AF, Özışık S, Al-Faham MSA, Abacı A, Dündar B, Kattan WE, Alsagob M, Kavukçu S, Tamimi HE, Meyer BF, Böber E, Shi Y. PLoS One; 2018; 13(3):e0193388. PubMed ID: 29505567 [Abstract] [Full Text] [Related]
2. Mutational analysis of PHEX, FGF23 and CLCN5 in patients with hypophosphataemic rickets. Guven A, Al-Rijjal RA, BinEssa HA, Dogan D, Kor Y, Zou M, Kaya N, Alenezi AF, Hancili S, Tarım Ö, Baitei EY, Kattan WE, Meyer BF, Shi Y. Clin Endocrinol (Oxf); 2017 Jul; 87(1):103-112. PubMed ID: 28383812 [Abstract] [Full Text] [Related]
3. Mutational analysis of PHEX, FGF23, DMP1, SLC34A3 and CLCN5 in patients with hypophosphatemic rickets. Beck-Nielsen SS, Brixen K, Gram J, Brusgaard K. J Hum Genet; 2012 Jul; 57(7):453-8. PubMed ID: 22695891 [Abstract] [Full Text] [Related]
4. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets. Ma SL, Vega-Warner V, Gillies C, Sampson MG, Kher V, Sethi SK, Otto EA. PLoS One; 2015 Jul; 10(6):e0130729. PubMed ID: 26107949 [Abstract] [Full Text] [Related]
5. Seven novel and six de novo PHEX gene mutations in patients with hypophosphatemic rickets. Li SS, Gu JM, Yu WJ, He JW, Fu WZ, Zhang ZL. Int J Mol Med; 2016 Dec; 38(6):1703-1714. PubMed ID: 27840894 [Abstract] [Full Text] [Related]
13. PHEX 3'-UTR c.*231A>G near the polyadenylation signal is a relatively common, mild, American mutation that masquerades as sporadic or X-linked recessive hypophosphatemic rickets. Mumm S, Huskey M, Cajic A, Wollberg V, Zhang F, Madson KL, Wenkert D, McAlister WH, Gottesman GS, Whyte MP. J Bone Miner Res; 2015 Jan; 30(1):137-43. PubMed ID: 25042154 [Abstract] [Full Text] [Related]
19. [Identification of a novel splicing mutation of PHEX gene in a pedigree affected with X-linked hypophosphatemia]. Li J, Xu P, Huang S, Gao M, Zou Y, Kang R, Gao Y. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2017 Apr 10; 34(2):216-219. PubMed ID: 28397222 [Abstract] [Full Text] [Related]