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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. Mumm S, et al. Among authors: huskey m. J Bone Miner Res. 2015 Jan;30(1):137-43. doi: 10.1002/jbmr.2307. J Bone Miner Res. 2015. PMID: 25042154 Free article. Clinical Trial.
Hypophosphatemic osteosclerosis, hyperostosis, and enthesopathy associated with novel homozygous mutations of DMP1 encoding dentin matrix protein 1 and SPP1 encoding osteopontin: The first digenic SIBLING protein osteopathy?
Whyte MP, Amalnath SD, McAlister WH, McKee MD, Veis DJ, Huskey M, Duan S, Bijanki VN, Alur S, Mumm S. Whyte MP, et al. Among authors: huskey m. Bone. 2020 Mar;132:115190. doi: 10.1016/j.bone.2019.115190. Epub 2019 Dec 13. Bone. 2020. PMID: 31843680 Free PMC article. Review.
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