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Papers of the Week

2019 May

Medicine (Baltimore)



A novel heterozygous mutation c.680A>G (p. N227S) in SLC34A1 gene leading to autosomal dominant hypophosphatemia: A case report.


Chen X, Xie Y, Wan S, Xu J, Cai B, Zhang Y, Yu X
Medicine (Baltimore). 2019 May; 98(20):e15617.
PMID: 31096470.


Currently, the relationship between heterozygous mutations in SLC34A1 and hypophosphatemia is controversial. Here we report an autosomal dominant hypophosphatemia pedigree carrying a novel heterozygous mutation in SLC34A1.