- X-linked Hypophosphatemic Rickets, del(2)(q37.1;q37.3) Deletion Syndrome and Mosaic Turner Syndrome, mos 45,X/46,X, del(2)(q37.1;q37.3) in a 3-year-old Female
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Vidmar AP, Miyazaki B, Sanchez-Lara PA, Pitukcheewanont P
- KMID: 2397560
- J Bone Metab.
- 2017 Nov;24(4):257-261.
- doi: 10.11005/jbm.2017.24.4.257
There are currently no published cases that report concomitant Turner syndrome (TS), 2q37 deletion syndrome and X-linked hypophosphatemic rickets (XLH). Interestingly, since the clinical phenotypes of TS and 2q37 deletion... -
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- PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
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Song HR, Park JW, Cho DY, Yang JH, Yoon HR, Jung SC
- KMID: 1785757
- J Korean Med Sci.
- 2007 Dec;22(6):981-986.
- doi: 10.3346/jkms.2007.22.6.981
X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five... -
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