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A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.

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Title: A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.
Authors: Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy. mscala.md@gmail.com.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy. mscala.md@gmail.com., Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Uyen Le TN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Zhang Y; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Wu Y; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore., Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Madia F; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy., Shams Nosrati MS; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy., Dostmohammadi A; Department of Bioinformatics and Computational Biophysics, Faculty of Biology and Centre for Medical Biotechnology (ZMB), University of Duisburg-Essen, Essen, Germany., Capra V; Genomics and Clinical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy., Paladini D; Fetal Medicine and Surgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Buffelli F; Clinical Pathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Fulcheri E; Clinical Pathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Cappato S; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy., Menta L; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy., Bocciardi R; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy., Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy., Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. bchnnl@nus.edu.sg.; SLING and Immunology Program, Life Sciences Institute, Centre for Life Sciences, National University of Singapore, Singapore, Singapore. bchnnl@nus.edu.sg.; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. bchnnl@nus.edu.sg.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Mar; Vol. 34 (3), pp. 324-332. Date of Electronic Publication: 2025 Mar 25.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A hypomorphic FLVCR2 variant resulting in moderate transport deficiency causes hydranencephaly syndrome with brain calcifications.
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  Data: <searchLink fieldCode="AU" term="%22Scala+M%22">Scala M</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy. mscala.md@gmail.com.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy. mscala.md@gmail.com.<br /><searchLink fieldCode="AU" term="%22Leong+NCP%22">Leong NCP</searchLink>; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Uyen+Le+TN%22">Uyen Le TN</searchLink>; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Zhang+Y%22">Zhang Y</searchLink>; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Wu+Y%22">Wu Y</searchLink>; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore.<br /><searchLink fieldCode="AU" term="%22Severino+M%22">Severino M</searchLink>; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Madia+F%22">Madia F</searchLink>; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Shams+Nosrati+MS%22">Shams Nosrati MS</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Dostmohammadi+A%22">Dostmohammadi A</searchLink>; Department of Bioinformatics and Computational Biophysics, Faculty of Biology and Centre for Medical Biotechnology (ZMB), University of Duisburg-Essen, Essen, Germany.<br /><searchLink fieldCode="AU" term="%22Capra+V%22">Capra V</searchLink>; Genomics and Clinical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Paladini+D%22">Paladini D</searchLink>; Fetal Medicine and Surgery Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Buffelli+F%22">Buffelli F</searchLink>; Clinical Pathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Fulcheri+E%22">Fulcheri E</searchLink>; Clinical Pathology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Cappato+S%22">Cappato S</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Menta+L%22">Menta L</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Bocciardi+R%22">Bocciardi R</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Zara+F%22">Zara F</searchLink>; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Università di Genova, Genoa, Italy.; Medical Genetics Unit, IRCSS Istituto Giannina Gaslini, Genoa, Italy.<br /><searchLink fieldCode="AU" term="%22Nguyen+LN%22">Nguyen LN</searchLink>; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. bchnnl@nus.edu.sg.; SLING and Immunology Program, Life Sciences Institute, Centre for Life Sciences, National University of Singapore, Singapore, Singapore. bchnnl@nus.edu.sg.; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, Singapore. bchnnl@nus.edu.sg.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2026 Mar; Vol. 34 (3), pp. 324-332. <i>Date of Electronic Publication: </i>2025 Mar 25.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1038/s41431-025-01836-7
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        Text: English
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              Text: 2026 Mar
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