Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.

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Bibliographic Details
Title: Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.
Authors: D'Abrusco F; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy., Gana S; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy., Alfei E; Pediatric Neurology Unit, Ospedale dei Bambini Vittore Buzzi, Milano, Italy., Scarano E; Pediatric Unit, IRCCS University Hospital of Bologna Sant Orsola Polyclinic, Bologna, Italy., Nicita F; Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy., Bertini ES; Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy., Digilio MC; Rare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy., Zanni G; Rare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy., Barbuti D; Imaging Department, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy., Carlicchi E; Pediatric Radiology Unit, Vittore Buzzi Children's Hospital, Milan, Italy., Pichiecchio A; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Neuroradiology Department, Foundation National Neurological Institute Casimiro Mondino, Pavia, Italy., D'Arrigo S; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy., Serpieri V; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Valente EM; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy enzamaria.valente@unipv.it.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
Source: Journal of medical genetics [J Med Genet] 2025 Nov 21; Vol. 62 (12), pp. 794-797. Date of Electronic Publication: 2025 Nov 21.
Publication Type: Journal Article
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1468-6244
DOI:10.1136/jmg-2025-110987