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Autosomal dominant osteopetrosis associated with renal tubular acidosis is due to a CLCN7 mutation
The aim of this study was to identify the causative mutation in a family with an unusual presentation of autosomal dominant osteopetrosis (OPT), proximal renal tubular acidosis (RTA), renal stones, epilepsy, and blindness, a combination of features not previously reported. We undertook exome sequenc...
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| 發表在: | Am J Med Genet A |
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| Main Authors: | , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
John Wiley and Sons Inc.
2016
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5132132/ https://ncbi.nlm.nih.gov/pubmed/27540713 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.37755 |
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