Ciliopathies in pediatric enodcrinology
- Author:
Ilenia CICOLINI
1
;
Annalisa BLASETTI
;
Francesco CHIARELLI
Author Information
- Publication Type:Reivew Article
- From:Annals of Pediatric Endocrinology & Metabolism 2023;28(1):5-9
- CountryRepublic of Korea
- Language:English
- 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.
