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注意:仅列出部分参考文献,下载原文获取全部文献信息。A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report
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Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature
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Deletions in the 3′ Part of the NFIX Gene Including a Recurrent Alu-Mediated Deletion of Exon 6 and 7 Account for Previously Unexplained Cases of Marshall-Smith Syndrome
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