一名35岁男性因BPTF基因破坏导致的面部畸形和远端肢体异常综合征相关神经发育障碍，最初被诊断为Silver-Russell综合征。 - Suppr | 超能文献

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Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35-year-old man initially diagnosed with Silver-Russell syndrome.一名35岁男性因BPTF基因破坏导致的面部畸形和远端肢体异常综合征相关神经发育障碍，最初被诊断为Silver-Russell综合征。

Clin Genet. 2019 Apr;95(4):534-536. doi: 10.1111/cge.13490. Epub 2019 Jan 11.

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Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.伴有畸形面容和四肢远端异常的 BPTF 相关神经发育障碍的表型扩展。

Am J Med Genet A. 2021 May;185(5):1366-1378. doi: 10.1002/ajmg.a.62102. Epub 2021 Jan 31.

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Temple syndrome misdiagnosed as Silver-Russell syndrome.被误诊为Silver-Russell综合征的坦普尔综合征

Clin Dysmorphol. 2016 Apr;25(2):82-3. doi: 10.1097/MCD.0000000000000114.

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Atypical Silver-Russell phenotype resulting from maternal uniparental disomy of chromosome 7.母体单亲二体性 7 号染色体导致的非典型性 Silver-Russell 表型。

Am J Med Genet A. 2010 Sep;152A(9):2342-5. doi: 10.1002/ajmg.a.33590.

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Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome.生成具有畸形面容和远端肢体异常综合征的神经发育障碍的小鼠模型。

Hum Mol Genet. 2022 Oct 10;31(20):3405-3421. doi: 10.1093/hmg/ddac119.

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Collagenopathy with a phenotype resembling Silver-Russell syndrome phenotype.具有类似Silver-Russell综合征表型的胶原病。

Am J Med Genet A. 2013 Oct;161A(10):2681-4. doi: 10.1002/ajmg.a.36093. Epub 2013 Aug 5.

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[A case of Russell-Silver syndrome].

Zhonghua Er Ke Za Zhi. 2006 Feb;44(2):147.

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Okur-Chung neurodevelopmental syndrome in a patient from Spain.西班牙患者的 Okur-Chung 神经发育综合征。

Am J Med Genet A. 2020 Jan;182(1):20-24. doi: 10.1002/ajmg.a.61405. Epub 2019 Nov 15.

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Hand anomalies in Russell Silver syndrome.罗素-西尔弗综合征中的手部异常。

J Plast Reconstr Aesthet Surg. 2009 Apr;62(4):462-5. doi: 10.1016/j.bjps.2007.11.036. Epub 2008 Jan 2.

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Russel-Silver syndrome: A historical note and comment on an older adult.罗素-西尔弗综合征：关于一位老年人的历史记录及评论。

Am J Med Genet A. 2016 Feb;170A(2):466-470. doi: 10.1002/ajmg.a.37442. Epub 2015 Nov 3.

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