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首页> 中文期刊> 《骨研究：英文》 >Identification of two novel mutations in the GALNT3 gene ina Chinese family with hyperphosphatemic familial tumoralcalcinosis

Identification of two novel mutations in the GALNT3 gene ina Chinese family with hyperphosphatemic familial tumoralcalcinosis

         
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摘要

Hyperphosphatemic familial tumoral calcinosis （HFTC） is a rare, autosomal recessive genetic disease.This disease is characterized by the progressive calcification of soft tissues leading to symptoms of pressureand hyperphosphatemia but normal concentrations of serum calcium with or without an elevation of1,25-dihydroxyvitamin D3 levels.HFTC is caused by loss-of-function mutations in the GALNT3, FGF23 orKL genes. Here, we identified two novel mutations in the GALNT3 gene in a Chinese family with HFTC.Identification of a novel genotype in HFTC provides clues for understanding the phenotype-genotyperelationships in HFTC and may assist not only in the clinical diagnosis of HFTC but also in the interpretationof the genetic information used for prenatal diagnosis and genetic counseling.

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