Ann Pediatr Endocrinol Metab.  2023 Mar;28(1):5-9. 10.6065/apem.2244288.144.

Ciliopathies in pediatric enodcrinology

• Cicolini I
• Blasetti A
• Chiarelli F

• KMID: 2540781
• DOI: http://doi.org/10.6065/apem.2244288.144

Abstract

Ciliopathies are a group of disorders that involve many organs and systems. In this review, we consider the role of the cilium in multiorgan pathology with a focus on endocrinological aspects. Identification of new genes and mutations is the major challenge in development of a tailored and appropriate therapy. It is expected that new mutations will be identified to characterize ciliopathies and promote new therapies.

Keyword

Ciliopathies; Cilia; Signaling

Reference

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