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Early Diagnosis of a Rare Genetic Syndrome by the First-trimester Ultrasound Combined with Exome Sequencing.

作者信息

Zhen Li, Li Dong-Zhi

机构信息

Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center Affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China.

出版信息

J Med Ultrasound. 2024 Sep 20;32(4):359-360. doi: 10.4103/jmu.jmu_162_23. eCollection 2024 Oct-Dec.

DOI:10.4103/jmu.jmu_162_23
PMID:39801547
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11717075/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3094/11717075/5ef9c594dfc4/JMU-32-359-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3094/11717075/5ef9c594dfc4/JMU-32-359-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3094/11717075/5ef9c594dfc4/JMU-32-359-g001.jpg

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本文引用的文献

1
DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.DYNC1H1 相关疾病：四位新的无相关患者的描述及对先前报道变异的全面综述
Am J Med Genet A. 2020 Sep;182(9):2049-2057. doi: 10.1002/ajmg.a.61729. Epub 2020 Jul 13.
2
Fetal arthrogryposis: Challenges and perspectives for prenatal detection and management.胎儿关节弯曲症：产前检测和管理的挑战和展望。
Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):327-336. doi: 10.1002/ajmg.c.31723. Epub 2019 Jul 18.
3
International multidisciplinary collaboration toward an annotated definition of arthrogryposis multiplex congenita.
国际多学科合作，旨在对先天性多发性关节挛缩症进行注释定义。
Am J Med Genet C Semin Med Genet. 2019 Sep;181(3):288-299. doi: 10.1002/ajmg.c.31721. Epub 2019 Jul 7.
4
No. 375-Clinical Practice Guideline on the Use of First Trimester Ultrasound.第375号 - 孕早期超声检查临床实践指南
J Obstet Gynaecol Can. 2019 Mar;41(3):388-395. doi: 10.1016/j.jogc.2018.09.020.
5
ISUOG practice guidelines: performance of first-trimester fetal ultrasound scan.国际妇产科超声学会（ISUOG）实践指南：孕早期胎儿超声检查的实施
Ultrasound Obstet Gynecol. 2013 Jan;41(1):102-13. doi: 10.1002/uog.12342.