A pseudo-dominant form of Gitelman’s syndrome
Gitelman’s syndrome is an autosomal recessive salt losing nephropathy caused by inactivated mutations of the SLC12A3 gene, encoding the NaCl cotransporter of the distal convoluted tubule. We report a French family with five affected members over two generations suggesting a dominant transmission. Af...
| Main Authors: | , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Oxford University Press
2011
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4421668/ |