Summer reading in EJHG.
作者信息
McNeill Alisdair
机构信息
Division of Neuroscience and Neuroscience Institute, The University of Sheffield, Sheffield, UK.
Sheffield Clinical Genetics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
出版信息
Eur J Hum Genet. 2024 Aug;32(8):885-886. doi: 10.1038/s41431-024-01672-1.
Abstract
摘要
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本文引用的文献
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Correction: Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals.更正：神经发育和神经退行性疾病Bryant-Li-Bhoj综合征的扩展表型谱，新增38例个体。
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Burden re-analysis of neurodevelopmental disorder cohorts for prioritization of candidate genes.对神经发育障碍队列进行负担再分析，以优先考虑候选基因。
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Mild phenotypes in patients with different deletions in the 3' enhancer region of SHOX.SHOX基因3'增强子区域不同缺失患者的轻度表型。
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Quality assurance for next-generation sequencing diagnostics of rare neurological diseases in the European Reference Network.欧洲参考网络中罕见神经疾病下一代测序诊断的质量保证
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Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.ERF 中的功能丧失性变异与具有或不具有颅缝早闭的诺南综合征样表型相关。
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Defining the variant-phenotype correlation in patients affected by Noonan syndrome with the RAF1:c.770C>T p.(Ser257Leu) variant.确定 RAF1:c.770C>T p.(Ser257Leu) 变异型患者中努南综合征的变异表型相关性。
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