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KMID : 1036920230280010005
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Annals of Pediatric Endocrinology & Metabolism
2023 Volume.28 No. 1 p.5 ~ p.9
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Ciliopathies in pediatric endocrinology
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Ilenia Cicolini
Annalisa Blasetti
Francesco Chiarelli
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Abstract
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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.
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KEYWORD
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Ciliopathies, Cilia, Signaling
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