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...
| Main Authors: | , , , , , , , |
|---|---|
| Format: | Online |
| Language: | English |
| Published: |
John Wiley and Sons Inc.
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5132132/ |