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

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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
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  Data: Further evidence of RNU4ATAC variants causing Joubert syndrome with skeletal involvement.
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  Data: <searchLink fieldCode="AU" term="%22D'Abrusco+F%22">D'Abrusco F</searchLink>; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Gana+S%22">Gana S</searchLink>; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Alfei+E%22">Alfei E</searchLink>; Pediatric Neurology Unit, Ospedale dei Bambini Vittore Buzzi, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Scarano+E%22">Scarano E</searchLink>; Pediatric Unit, IRCCS University Hospital of Bologna Sant Orsola Polyclinic, Bologna, Italy.<br /><searchLink fieldCode="AU" term="%22Nicita+F%22">Nicita F</searchLink>; Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Bertini+ES%22">Bertini ES</searchLink>; Unit of Muscular and Neurodegenerative Diseases, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Digilio+MC%22">Digilio MC</searchLink>; Rare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Zanni+G%22">Zanni G</searchLink>; Rare Diseases and Medical Genetics Unit, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Barbuti+D%22">Barbuti D</searchLink>; Imaging Department, IRCCS Bambino Gesù Childrens' Hospital, Rome, Italy.<br /><searchLink fieldCode="AU" term="%22Carlicchi+E%22">Carlicchi E</searchLink>; Pediatric Radiology Unit, Vittore Buzzi Children's Hospital, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Pichiecchio+A%22">Pichiecchio A</searchLink>; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Neuroradiology Department, Foundation National Neurological Institute Casimiro Mondino, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22D'Arrigo+S%22">D'Arrigo S</searchLink>; Developmental Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milano, Italy.<br /><searchLink fieldCode="AU" term="%22Serpieri+V%22">Serpieri V</searchLink>; Department of Molecular Medicine, University of Pavia, Pavia, Italy.<br /><searchLink fieldCode="AU" term="%22Valente+EM%22">Valente EM</searchLink>; Neurogenetics Research Centre, IRCCS Mondino Foundation, Pavia, Italy enzamaria.valente@unipv.it.; Department of Molecular Medicine, University of Pavia, Pavia, Italy.
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  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2025 Nov 21; Vol. 62 (12), pp. 794-797. <i>Date of Electronic Publication: </i>2025 Nov 21.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1136/jmg-2025-110987
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              Text: 2025 Nov 21
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