Hepatorenocardiac fibrosis is a group of rare, clinically and genetically heterogeneous inherited disorders affecting the development and degenerative function of the liver and kidneys. It is associated with ciliopathies, a group of diseases characterized by dysfunction of the primary cilium, a key organelle in cell signaling. We present a clinical case of ciliopathy linked to a genetic alteration in the protein TULP3 (TUB Like Protein 3) as a cause of hepatorenocardiac fibrosis.
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| http://dx.doi.org/10.17235/reed.2025.11135/2025 | DOI Listing |
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Ciliopathy due to genetic alterations of TULP3 as an uncommon cause of hepatorenocardiac fibrosis.
Rev Esp Enferm Dig
March 2025
Aparato Digestivo, Hospital Universitario Torrecárdenas.
Hepatorenocardiac fibrosis is a group of rare, clinically and genetically heterogeneous inherited disorders affecting the development and degenerative function of the liver and kidneys. It is associated with ciliopathies, a group of diseases characterized by dysfunction of the primary cilium, a key organelle in cell signaling. We present a clinical case of ciliopathy linked to a genetic alteration in the protein TULP3 (TUB Like Protein 3) as a cause of hepatorenocardiac fibrosis.
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