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