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HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW
OBJECTIVE: Hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, recessively-inherited form of rickets caused by homozygous or compound heterozygous mutations in the SLC34A3 gene that encodes the renal tubular phosphate transporter protein NaPi2c. The bone phenotype varies from severe ricke...
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| 發表在: | AACE Clin Case Rep |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
American Association of Clinical Endocrinologists
2020
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7282280/ https://ncbi.nlm.nih.gov/pubmed/32524022 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4158/ACCR-2019-0456 |
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