Ciliopathies in pediatric endocrinology

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 appropria...

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Detalles Bibliográficos
Autores principales: Cicolini, Ilenia, Blasetti, Annalisa, Chiarelli, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Korean Society of Pediatric Endocrinology 2023
Materias:
Reivew Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10073028/
https://www.ncbi.nlm.nih.gov/pubmed/37015775
http://dx.doi.org/10.6065/apem.2244288.144
Descripción
Sumario: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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