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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.
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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  Data: Case Report: Novel homozygous MAN1B1mutation in two Italians patients with Rafiq syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Cotelli+MS%22">Cotelli MS</searchLink>; Cognitive and Behavioural Neurology, ASST Spedali Civili, Spedali Civili 1 Square, Brescia, BS, 25100, Italy. mariasofia.cotelli1@unibs.it.<br /><searchLink fieldCode="AU" term="%22Draghi+A%22">Draghi A</searchLink>; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Medical Genetic Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Bestetti+I%22">Bestetti I</searchLink>; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Laboratory Genetic Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Bedeschi+MF%22">Bedeschi MF</searchLink>; Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, Medical Genetic Unit, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Borroni+B%22">Borroni B</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22100959175%22">Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology</searchLink> [Neurol Sci] 2025 Apr; Vol. 46 (4), pp. 1937-1939. <i>Date of Electronic Publication: </i>2024 Dec 09.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Springer-Verlag+Italia%22">Springer-Verlag Italia </searchLink><i>Country of Publication: </i>Italy <i>NLM ID: </i>100959175 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1590-3478 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2215901874%22">15901874 </searchLink><i>NLM ISO Abbreviation: </i>Neurol Sci <i>Subsets: </i>MEDLINE; In Process
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        Value: 10.1007/s10072-024-07893-y
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      – Code: eng
        Text: English
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        StartPage: 1937
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      – TitleFull: Case Report: Novel homozygous MAN1B1mutation in two Italians patients with Rafiq syndrome.
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              Text: 2025 Apr
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