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Monogenic Syndromes: The Need for Clinical Vigilance in Fetuses with Pierre Robin Sequence in the Era of Noninvasive Prenatal Screening.

作者信息

Chen Yong-Shan, Li Dong-Zhi

机构信息

Prenatal Diagnosis Unit, Zhongshan City People's Hospital, Zhongshan, Guangdong, China.

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

出版信息

J Med Ultrasound. 2025 Mar 13;33(1):82-83. doi: 10.4103/jmu.jmu_20_24. eCollection 2025 Jan-Mar.

DOI:10.4103/jmu.jmu_20_24
PMID:40206970
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11978257/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/385e/11978257/83d7c0e5487f/JMU-33-82-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/385e/11978257/83d7c0e5487f/JMU-33-82-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/385e/11978257/83d7c0e5487f/JMU-33-82-g001.jpg

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Monogenic Syndromes: The Need for Clinical Vigilance in Fetuses with Pierre Robin Sequence in the Era of Noninvasive Prenatal Screening.单基因综合征：无创产前筛查时代对患有皮埃尔·罗宾序列征胎儿的临床警惕性需求
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本文引用的文献

1
A case of osteopathia striata with cranial sclerosis with facial nerve palsies.一例伴有颅骨硬化及面神经麻痹的条纹状骨病。
Pediatr Int. 2023 Jan-Dec;65(1):e15648. doi: 10.1111/ped.15648.
2
Prenatal Diagnosis of Pierre Robin Sequence and Its Prognosis: A Retrospective Cohort Study.皮埃尔·罗宾序列征的产前诊断及其预后：一项回顾性队列研究
Am J Perinatol. 2024 May;41(S 01):e1639-e1646. doi: 10.1055/s-0043-1768233. Epub 2023 Apr 17.
3
Osteopathia striata with cranial sclerosis causing a compressive optic neuropathy.
Ophthalmic Genet. 2023 Oct;44(5):496-500. doi: 10.1080/13816810.2022.2144902. Epub 2022 Nov 29.
4
Exome sequencing as first-tier test for fetuses with severe central nervous system structural anomalies.外显子组测序作为一线检测手段用于严重中枢神经系统结构异常的胎儿。
Ultrasound Obstet Gynecol. 2022 Jul;60(1):59-67. doi: 10.1002/uog.24885.
5
Osteopathia Striata with Cranial Sclerosis: A Face-to-Radiograph-to-Gene Diagnosis.纹状骨病伴颅骨硬化症：从面容到影像学再到基因的诊断
J Pediatr Genet. 2020 Aug 4;11(1):63-67. doi: 10.1055/s-0040-1715120. eCollection 2022 Mar.
6
The phenotypic spectrum of AMER1-related osteopathia striata with cranial sclerosis: The first Canadian cohort.AMER1 相关条纹状骨硬化性骨病表型谱：首个加拿大队列研究。
Am J Med Genet A. 2021 Dec;185(12):3793-3803. doi: 10.1002/ajmg.a.62452. Epub 2021 Aug 20.