Article
Ciliopathies.
Cold Spring Harbor perspectives in biology - 1 Mar 2017
Braun Daniela A, Hildebrandt Friedhelm
Abstract excerpt
Nephronophthisis-related ciliopathies (NPHP-RC) are a group of inherited diseases that affect genes encoding proteins that localize to primary cilia or centrosomes. With few exceptions, ciliopathies are inherited in an autosomal recessive manner, and affected individuals manifest early during childhood or adolescence. NPHP-RC are genetically very heterogeneous, and, currently, mutations in more than 90 genes have...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.