Case Report: Novel homozygous MAN1B1mutation in two Italians patients with Rafiq syndrome.
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| Title: | Case Report: Novel homozygous MAN1B1mutation in two Italians patients with Rafiq syndrome. |
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| Authors: | Cotelli MS; Cognitive and Behavioural Neurology, ASST Spedali Civili, Spedali Civili 1 Square, Brescia, BS, 25100, Italy. mariasofia.cotelli1@unibs.it., Draghi A; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Medical Genetic Unit, Milan, Italy., Bestetti I; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Laboratory Genetic Unit, Milan, Italy., Bedeschi MF; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Medical Genetic Unit, Milan, Italy., Borroni B; Cognitive and Behavioural Neurology, ASST Spedali Civili, Spedali Civili 1 Square, Brescia, BS, 25100, Italy.; Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy. |
| Source: | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2025 Apr; Vol. 46 (4), pp. 1937-1939. Date of Electronic Publication: 2024 Dec 09. |
| Publication Type: | Letter |
| Journal Info: | Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE; In Process |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1590-3478 |
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| DOI: | 10.1007/s10072-024-07893-y |
