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Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.

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Title: Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.
Authors: Civit A; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France., Ronce N; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France., Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Besnard T; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France., Laurenceau D; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France., Hubert C; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France., Moizard MP; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France., Gueguen P; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France., Toutain A; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France., Vuillaume ML; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.
Source: Clinical genetics [Clin Genet] 2025 Feb; Vol. 107 (2), pp. 231-233. Date of Electronic Publication: 2024 Nov 10.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Identification of a Rare Branch Point Variant in the SMS Gene in a Large Family With a Severe Form of Snyder-Robinson Syndrome.
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  Data: <searchLink fieldCode="AU" term="%22Civit+A%22">Civit A</searchLink>; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.<br /><searchLink fieldCode="AU" term="%22Ronce+N%22">Ronce N</searchLink>; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.<br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Laurenceau+D%22">Laurenceau D</searchLink>; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.<br /><searchLink fieldCode="AU" term="%22Hubert+C%22">Hubert C</searchLink>; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.<br /><searchLink fieldCode="AU" term="%22Moizard+MP%22">Moizard MP</searchLink>; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.<br /><searchLink fieldCode="AU" term="%22Gueguen+P%22">Gueguen P</searchLink>; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.<br /><searchLink fieldCode="AU" term="%22Toutain+A%22">Toutain A</searchLink>; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.<br /><searchLink fieldCode="AU" term="%22Vuillaume+ML%22">Vuillaume ML</searchLink>; Service de Génétique, Centre Hospitalier Régional Universitaire de Tours, Tours, France.; UMR 1253, iBrain, Université de Tours, INSERM, Tours, France.
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  Data: <searchLink fieldCode="JN" term="%220253664%22">Clinical genetics</searchLink> [Clin Genet] 2025 Feb; Vol. 107 (2), pp. 231-233. <i>Date of Electronic Publication: </i>2024 Nov 10.
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              Text: 2025 Feb
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