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Rubinstein-Taybi Syndrome in a Fetus: Contribution of 2- and 3-Dimensional Ultrasonography.

作者信息

Cardalliac Claire, Vincent Marie, Joubert Madeleine, Le Vaillant Claudine

机构信息

Department of Gynecology and Obstetrics.

Department of Clinical Genetics.

出版信息

J Ultrasound Med. 2018 Feb;37(2):531-534. doi: 10.1002/jum.14342. Epub 2017 Aug 16.

DOI:10.1002/jum.14342
PMID:28815748
Abstract
摘要

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Challenges in Prenatal Ultrasound Diagnosis of Rubinstein-Taybi Syndrome: A Case Report and Comprehensive Literature Review.鲁宾斯坦-泰比综合征产前超声诊断的挑战：一例报告及文献综述
Int J Mol Sci. 2025 May 27;26(11):5142. doi: 10.3390/ijms26115142.
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Brain Abnormalities in Prenatally Diagnosed Rubinstein-Taybi Syndrome.产前诊断的鲁宾斯坦-泰比综合征的脑部异常
Prenat Diagn. 2025 May;45(5):686-692. doi: 10.1002/pd.6786. Epub 2025 Apr 7.
3
Diagnosis and management in Rubinstein-Taybi syndrome: first international consensus statement.
Rubinstein-Taybi 综合征的诊断与管理：首份国际共识声明。
J Med Genet. 2024 May 21;61(6):503-519. doi: 10.1136/jmg-2023-109438.
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Rubinstein-Taybi Syndrome: A Model of Epigenetic Disorder.鲁宾斯坦-泰比综合征：一种表观遗传疾病模型。
Genes (Basel). 2021 Jun 24;12(7):968. doi: 10.3390/genes12070968.
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