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 sequencing of one affected and one unaffected family member, followed by targeted analysis of known candidate genes to identify the causative mutation. This identified a missense mutation (c.643G>A; p....Expand abstract
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Copyright © 2016 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.
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