Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing.
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| Title: | Get Your Molar Tooth Right: Joubert Syndrome Misdiagnosis Unmasked by Whole-Exome Sequencing. |
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| Authors: | D'Abrusco F; Deparment of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy., Arrigoni F; Neuroimaging Lab, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Serpieri V; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy., Romaniello R; Neuropsychiatry and Neurorehabilitation Unit, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Caputi C; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università Di Roma La Sapienza, Rome, Italy., Manti F; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università Di Roma La Sapienza, Rome, Italy., Jocic-Jakubi B; Child Health Department, Sultan Qaboos University Hospital, Muscat, Oman.; Pediatric Clinic, Child Neurology Department, Clinical Center Nis, Nis, Serbia., Lucarelli E; Unit for Severe Disabilities in Developmental Age and Young Adults, Scientific Institute IRCCS Eugenio Medea, Brindisi, Italy., Panzeri E; Molecular Biology Laboratory, Scientific Institute IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Bonaglia MC; Cytogenetics Laboratory, Scientific Institute, IRCCS Eugenio Medea, Bosisio Parini, Lecco, Italy., Chiapparini L; Neuroradiology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy., Pichiecchio A; Neuroradiology Unit, IRCCS Mondino Foundation, Pavia, Italy.; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy., Pinelli L; Neuroradiology Unit, Pediatric Neuroradiology Section, ASST Spedali Civili, Brescia, Italy., Righini A; Paediatric Radiology and Neuroradiology Department, V. Buzzi Children's Hospital, Milan, Italy., Leuzzi V; Unit of Child Neurology and Psychiatry, Department of Human Neuroscience, Università Di Roma La Sapienza, Rome, Italy., Borgatti R; Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.; Child Neurology and Psychiatry Unit, IRCCS Mondino Foundation, Pavia, Italy., Valente EM; Deparment of Molecular Medicine, University of Pavia, via Forlanini 14, 27100, Pavia, Italy. enzamaria.valente@unipv.it.; Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy. enzamaria.valente@unipv.it. |
| Source: | Cerebellum (London, England) [Cerebellum] 2022 Dec; Vol. 21 (6), pp. 1144-1150. Date of Electronic Publication: 2021 Nov 30. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: Springer Country of Publication: United States NLM ID: 101089443 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1473-4230 (Electronic) Linking ISSN: 14734222 NLM ISO Abbreviation: Cerebellum Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1473-4230 |
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| DOI: | 10.1007/s12311-021-01350-8 |
