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Post-Abortem Detection of a Pathogenic Somatic PIK3CA-Variant in an Abdominal Lymphangioma That Is Not Present in Cultured Amniotic Fluid Cells.

作者信息

Roggia Cristiana, Ballin Nadja, Faust Ulrike, Kagan Karl Oliver, Dufke Andreas

机构信息

Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.

Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.

出版信息

Prenat Diagn. 2024 Dec;44(13):1671-1674. doi: 10.1002/pd.6702. Epub 2024 Nov 6.

DOI:10.1002/pd.6702
PMID:39505717
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11628209/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2257/11628209/98d29ebb3b31/PD-44-1671-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2257/11628209/98d29ebb3b31/PD-44-1671-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2257/11628209/98d29ebb3b31/PD-44-1671-g001.jpg

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本文引用的文献

1
Lymphatic Malformations: Genetics, Mechanisms and Therapeutic Strategies.淋巴畸形：遗传学、机制与治疗策略。
Circ Res. 2021 Jun 25;129(1):136-154. doi: 10.1161/CIRCRESAHA.121.318142. Epub 2021 Jun 24.
2
Prenatal imaging diagnosis of PIK3CA-related overgrowth spectrum disorders in first trimester with emphasis on extremities.
Ultrasound Obstet Gynecol. 2020 Nov;56(5):780-781. doi: 10.1002/uog.21942.
3
Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.使用定制设计的二代测序面板对镶嵌性过度生长综合征进行分子诊断。
J Mol Diagn. 2017 Jul;19(4):613-624. doi: 10.1016/j.jmoldx.2017.04.006. Epub 2017 May 11.
4
Prenatal Detection of PIK3CA-related Overgrowth Spectrum in Cultured Amniocytes Using Long-range PCR and Next-generation Sequencing.使用长程聚合酶链反应和下一代测序技术在培养的羊水中检测PIK3CA相关过度生长谱系
Pediatr Dev Pathol. 2017 Jan-Feb;20(1):54-57. doi: 10.1177/1093526616669820. Epub 2017 Jan 25.
5
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.PIK3CA相关过度生长谱系（PROS）：诊断及检测适用标准、鉴别诊断与评估
Am J Med Genet A. 2015 Feb;167A(2):287-95. doi: 10.1002/ajmg.a.36836. Epub 2014 Dec 31.
6
Prenatal diagnosis of CLOVES syndrome confirmed by detection of a mosaic PIK3CA mutation in cultured amniocytes.通过检测培养羊水中的镶嵌性PIK3CA突变确诊CLOVES综合征的产前诊断。
Am J Med Genet A. 2014 Oct;164A(10):2633-7. doi: 10.1002/ajmg.a.36672. Epub 2014 Jul 14.