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VPS35L-related Ritscher-Schinzel syndrome: Expanding genotype-phenotype correlations.

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Title: VPS35L-related Ritscher-Schinzel syndrome: Expanding genotype-phenotype correlations.
Authors: Carelli I; Department of Medical Sciences, University of Turin, Turin, 10126, Italy., Rondot F; Department of Medical Sciences, University of Turin, Turin, 10126, Italy., Luca M; Department of Medical Sciences, University of Turin, Turin, 10126, Italy., Reynolds G; Department of Public Health and Pediatric Sciences, University of Turin, Turin, 10126, Italy., Massuras S; Pediatric Clinical Genetics Unit, Regina Margherita Children's Hospital, Città della Salute e della Scienza di Torino, Torino, 10126, Italy., Di Gregorio E; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, 10126, Italy., Marinoni R; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, 10126, Italy., Papagni G; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., D'Alfonso S; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy., Colavito D; Research and Innovation S.r.l. (R&I Genetics), Torre della Ricerca, C.so Stati Uniti 4, Padova, 35127, Italy., Patanè A; Research and Innovation S.r.l. (R&I Genetics), Torre della Ricerca, C.so Stati Uniti 4, Padova, 35127, Italy., Brusco A; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, 10126, Italy; Department of Neurosciences, University of Turin, Turin, 10126, Italy., Mussa A; Department of Public Health and Pediatric Sciences, University of Turin, Turin, 10126, Italy; Pediatric Clinical Genetics Unit, Regina Margherita Children's Hospital, Città della Salute e della Scienza di Torino, Torino, 10126, Italy. Electronic address: alessandro.mussa@unito.it.
Source: European journal of medical genetics [Eur J Med Genet] 2026 May 16; Vol. 82, pp. 105085. Date of Electronic Publication: 2026 May 16.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: <searchLink fieldCode="AU" term="%22Carelli+I%22">Carelli I</searchLink>; Department of Medical Sciences, University of Turin, Turin, 10126, Italy.<br /><searchLink fieldCode="AU" term="%22Rondot+F%22">Rondot F</searchLink>; Department of Medical Sciences, University of Turin, Turin, 10126, Italy.<br /><searchLink fieldCode="AU" term="%22Luca+M%22">Luca M</searchLink>; Department of Medical Sciences, University of Turin, Turin, 10126, Italy.<br /><searchLink fieldCode="AU" term="%22Reynolds+G%22">Reynolds G</searchLink>; Department of Public Health and Pediatric Sciences, University of Turin, Turin, 10126, Italy.<br /><searchLink fieldCode="AU" term="%22Massuras+S%22">Massuras S</searchLink>; Pediatric Clinical Genetics Unit, Regina Margherita Children's Hospital, Città della Salute e della Scienza di Torino, Torino, 10126, Italy.<br /><searchLink fieldCode="AU" term="%22Di+Gregorio+E%22">Di Gregorio E</searchLink>; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, 10126, Italy.<br /><searchLink fieldCode="AU" term="%22Marinoni+R%22">Marinoni R</searchLink>; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, 10126, Italy.<br /><searchLink fieldCode="AU" term="%22Papagni+G%22">Papagni G</searchLink>; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.<br /><searchLink fieldCode="AU" term="%22D'Alfonso+S%22">D'Alfonso S</searchLink>; Department of Health Sciences, University of Eastern Piedmont, Novara, Italy.<br /><searchLink fieldCode="AU" term="%22Colavito+D%22">Colavito D</searchLink>; Research and Innovation S.r.l. (R&I Genetics), Torre della Ricerca, C.so Stati Uniti 4, Padova, 35127, Italy.<br /><searchLink fieldCode="AU" term="%22Patanè+A%22">Patanè A</searchLink>; Research and Innovation S.r.l. (R&I Genetics), Torre della Ricerca, C.so Stati Uniti 4, Padova, 35127, Italy.<br /><searchLink fieldCode="AU" term="%22Brusco+A%22">Brusco A</searchLink>; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, 10126, Italy; Department of Neurosciences, University of Turin, Turin, 10126, Italy.<br /><searchLink fieldCode="AU" term="%22Mussa+A%22">Mussa A</searchLink>; Department of Public Health and Pediatric Sciences, University of Turin, Turin, 10126, Italy; Pediatric Clinical Genetics Unit, Regina Margherita Children's Hospital, Città della Salute e della Scienza di Torino, Torino, 10126, Italy. Electronic address: alessandro.mussa@unito.it.
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  Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2026 May 16; Vol. 82, pp. 105085. <i>Date of Electronic Publication: </i>2026 May 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE
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