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Original article: A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

机译：原始文章：前瞻性研究验证了临床评分系统并证明了银-罗素综合征的表型-基因型相关性

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摘要

BackgroundMultiple clinical scoring systems have been proposed for Silver-Russell syndrome (SRS). Here we aimed to test a clinical scoring system for SRS and to analyse the correlation between (epi)genotype and phenotype.

机译：背景技术已经提出了针对银-罗素综合征（SRS）的多种临床评分系统。在这里，我们旨在测试SRS的临床评分系统，并分析（epi）基因型与表型之间的相关性。

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期刊名称 BMJ Open Access
作者
Salah Azzi; Jennifer Salem; Nathalie Thibaud; Sandra Chantot-Bastaraud; Eli Lieber; Irène Netchine; Madeleine D Harbison;
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作者单位

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年(卷),期 -1(52),7
年度 -1
页码 446–453
总页数 8
原文格式 PDF
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关键词
Russell Silver Syndrome Silver Russell Spectrum Clinical scoring system ICR1 11p15 hypomethylation and mUPD7 phenotypic-genotypic correlation;

机译：罗素银综合征;罗素银谱;临床评分系统;ICR1 11p15亚甲基化和mUPD7;表型与基因型相关;

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1. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome [J] . Azzi Salah, Salem Jennifer, Thibaud Nathalie, Journal of Medical Genetics . 2015,第7期

机译：前瞻性研究验证了临床评分系统并证明了银-罗素综合征的表型-基因型相关性
2. Comparison of the clinical scoring systems in Silver-Russell syndrome and development of modified diagnostic criteria to guide molecular genetic testing [J] . DiasR.P., NightingaleP., HardyC., Journal of Medical Genetics . 2013,第9期

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7. A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome [O] . Azzi, Salah, Salem, Jennifer, Thibaud, Nathalie, 2015

机译：前瞻性研究验证了临床评分系统并证明了银-罗素综合征的表型-基因型相关性

Original article: A prospective study validating a clinical scoring system and demonstrating phenotypical-genotypical correlations in Silver-Russell syndrome

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