Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.

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Title: Novel pathogenic TGFBR1 and SMAD3 variants identified after cerebrovascular events in adult patients with Loeys-dietz syndrome.
Authors: Laterza D; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Ritelli M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy., Zini A; IRCCS Istituto di Scienze Neurologiche di Bologna, Department of Neurology and Stroke Center, Maggiore Hospital, Bologna, Italy. Electronic address: a.zini@ausl.bologna.it., Colombi M; Division of Biology and Genetics, Department of Molecular and Translational Medicine, University of Brescia, Brescia, Italy., Dell'Acqua ML; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Vandelli L; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Bigliardi G; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Verganti L; Neuroradiology, Department. of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Vallone S; Neuroradiology, Department. of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Vincenzi C; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Rosafio F; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Ciolli L; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Calabrese O; Medical Genetics Unit, University of Modena and Reggio Emilia, Modena, Italy., Nichelli PF; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy., Picchetto L; Stroke Unit, Neurology Clinic, Department of Neuroscience, Ospedale Civile 'S. Agostino-Estense', Modena University Hospital, University of Modena and Reggio Emilia, Modena, Italy.
Source: European journal of medical genetics [Eur J Med Genet] 2019 Oct; Vol. 62 (10), pp. 103727. Date of Electronic Publication: 2019 Jul 18.
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
Description
ISSN:1878-0849
DOI:10.1016/j.ejmg.2019.103727