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. 2023 Mar;28(1):5-9.
doi: 10.6065/apem.2244288.144. Epub 2023 Mar 31.

Ciliopathies in pediatric endocrinology

Ilenia Cicolini  1 , Annalisa Blasetti  1 , Francesco Chiarelli  1
Affiliations

Ciliopathies in pediatric endocrinology

Ilenia Cicolini et al. Ann Pediatr Endocrinol Metab. 2023 Mar.

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.

Keywords: Cilia; Ciliopathies; Signaling.

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Conflict of interest statement

Conflicts of interest

No potential conflict of interest relevant to this article was reported.

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