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Corrigendum: Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.

作者信息

Jenkinson Emma M, Rodero Mathieu P, Kasher Paul R, Uggenti Carolina, Oojageer Anthony, Goosey Laurence C, Rose Yoann, Kershaw Christopher J, Urquhart Jill E, Williams Simon G, Bhaskar Sanjeev S, O'Sullivan James, Baerlocher Gabriela M, Haubitz Monika, Aubert Geraldine, Barañano Kristin W, Barnicoat Angela J, Battini Roberta, Berger Andrea, Blair Edward M, Brunstrom-Hernandez Janice E, Buckard Johannes A, Cassiman David M, Caumes Rosaline, Cordelli Duccio M, De Waele Liesbeth M, Fay Alexander J, Ferreira Patrick, Fletcher Nicholas A, Fryer Alan E, Goel Himanshu, Hemingway Cheryl A, Henneke Marco, Hughes Imelda, Jefferson Rosalind J, Kumar Ram, Lagae Lieven, Landrieu Pierre G, Lourenço Charles M, Malpas Timothy J, Mehta Sarju G, Metz Imke, Naidu Sakkubai, Õunap Katrin, Panzer Axel, Prabhakar Prab, Quaghebeur Gerardine, Schiffmann Raphael, Sherr Elliott H, Sinnathuray Kanaga R, Soh Calvin, Stewart Helen S, Stone John, Van Esch Hilde, Van Mol Christine E G, Vanderver Adeline, Wakeling Emma L, Whitney Andrea, Pavitt Graham D, Griffiths-Jones Sam, Rice Gillian I, Revy Patrick, van der Knaap Marjo S, Livingston John H, O'Keefe Raymond T, Crow Yanick J

出版信息

Nat Genet. 2017 Jan 31;49(2):317. doi: 10.1038/ng0217-317b.

DOI:10.1038/ng0217-317b
PMID:28138155
Abstract
摘要

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Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.七例患有脑钙化和囊肿的白质脑病患者中新型SNORD118突变的鉴定。
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Leukoencephalopathy with calcification and cysts: A cerebral microangiopathy caused by mutations in SNORD118.伴有钙化和囊肿的白质脑病：一种由SNORD118基因突变引起的脑微血管病。
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Leukoencephalopathy with brain calcifications and cysts (Labrune syndrome) case report: diagnosis and management of a rare neurological disease.脑钙化和囊肿性脑白质病（Labrune 综合征）病例报告：一种罕见神经系统疾病的诊断与治疗。
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Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts.SNORD118基因的突变会导致伴有钙化和囊肿的脑微血管病性白质脑病。
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Phenotypic Variability in Leukoencephalopathy with Brain Calcifications and Cysts: Case Report of Siblings from an Irish Traveller Family with a Homozygous SNORD118 Mutation.伴脑钙化和囊肿的白质脑病的表型变异性：来自一个具有纯合子SNORD118突变的爱尔兰旅行者家庭的兄弟姐妹的病例报告
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Systemic involvement in adult-onset leukoencephalopathy with intracranial calcifications and cysts (Labrune syndrome) with a novel mutation of the SNORD118 gene.成人起病脑白质病伴颅内钙化和囊肿（Labrune 综合征）伴 SNORD118 基因新突变的系统性受累。
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Genes (Basel). 2023 Sep 19;14(9):1817. doi: 10.3390/genes14091817.