AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE
Autosomal recessive polycystic kidney disease (ARPKD) is an inherited ciliopathy caused by mutations in the PKHD1 gene, which encodes the membrane protein fibrocystin/polyductin. Mutations lead to primary cilia dysfunction, which predominantly affects the kidneys and hepatobiliary system. The spectr...
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| Main Authors: | , |
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| Format: | Book |
| Published: |
The Society for Children with Metabolic Disorders,
2022-03-01T00:00:00Z.
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