A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation
Renal coloboma syndrome (RCS) is a rare inherited condition exhibiting a variable clinical phenotype of renal and ocular abnormalities. In 50% of cases, mutations can be found in the transcription factor PAX2. We present three generations of a family with a PAX2 mutation who showed variable eye and...
| Main Authors: | , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Oxford University Press
2013
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4898336/ |