1932

Abstract

The association between renal dysplasia and minor malformations of the external ear is weak. However, there is a remarkable list of syndromes that link the kidney to the inner ear. To organize these seemingly disparate syndromes, we cluster representative examples into three groups: () syndromes that share pathways regulating development; () syndromes involving dysfunction of the primary cilium, which normally provides critical information to epithelial cells about the fluid in which they are bathed; () syndromes arising from dysfunction of specialized proteins that transport ions and drugs in and out of the extracellular fluid or provide structural support.

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/content/journals/10.1146/annurev.med.60.052307.120752
2009-02-18
2024-05-23
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  • Article Type: Review Article
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