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Congenital Chylothorax as the Initial Presentation of PTPN11-Associated Noonan Syndrome.

作者信息

Ebrahimi-Fakhari Darius, Freiman Eli, Wojcik Monica H, Krone Katie, Casey Alicia, Winn Ariel S, Roberts Amy E, Harper Beth D

机构信息

Division of General Pediatrics Department of Neurology.

Division of General Pediatrics.

出版信息

J Pediatr. 2017 Jun;185:248-248.e1. doi: 10.1016/j.jpeds.2017.02.042. Epub 2017 Mar 28.

DOI:10.1016/j.jpeds.2017.02.042
PMID:28363362
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5529256/
Abstract
摘要

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本文引用的文献

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Objective studies of the face of Noonan, Cardio-facio-cutaneous, and Costello syndromes: A comparison of three disorders of the Ras/MAPK signaling pathway.努南综合征、心面皮肤综合征和科斯特洛综合征面部的客观研究：Ras/MAPK信号通路三种疾病的比较
Am J Med Genet A. 2016 Oct;170(10):2570-7. doi: 10.1002/ajmg.a.37736. Epub 2016 May 7.
2
The lymphatic phenotype in Noonan and Cardiofaciocutaneous syndrome.努南综合征和心面皮肤综合征中的淋巴表型
Eur J Hum Genet. 2016 May;24(5):690-6. doi: 10.1038/ejhg.2015.175. Epub 2015 Aug 5.
3
Congenital chylothorax: a prospective nationwide epidemiological study in Germany.
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4
Pathological MAPK activation-mediated lymphatic basement membrane disruption causes lymphangiectasia that is treatable with ravoxertinib.病理性 MAPK 激活介导的淋巴基底膜破坏导致淋巴管扩张，可通过 ravoxertinib 治疗。
JCI Insight. 2022 Sep 8;7(17):e153033. doi: 10.1172/jci.insight.153033.
5
Lymphangiography as a Treatment for Refractory Congenital Chylothorax Due to RASopathies: A Report of Two Cases.淋巴管造影术治疗因RAS病导致的难治性先天性乳糜胸：两例报告
Interv Radiol (Higashimatsuyama). 2022 Jan 12;7(1):17-20. doi: 10.22575/interventionalradiology.2021-0014. eCollection 2022 Mar 1.
6
Refractory thrombocytopenia could be a rare initial presentation of Noonan syndrome in newborn infants: a case report and literature review.新生儿难治性血小板减少症可能是努南综合征的罕见首发表现：病例报告及文献复习。
BMC Pediatr. 2022 Mar 17;22(1):142. doi: 10.1186/s12887-021-02909-4.
7
Lymphatic Abnormalities in Noonan Syndrome Spectrum Disorders: A Systematic Review.努南综合征谱系障碍中的淋巴系统异常：一项系统综述。
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Nat Med. 2019 Jul;25(7):1116-1122. doi: 10.1038/s41591-019-0479-2. Epub 2019 Jul 1.
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Pediatrics. 2014 Apr;133(4):722-33. doi: 10.1542/peds.2013-2072. Epub 2014 Mar 31.
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Genetics of lymphatic anomalies.淋巴管异常的遗传学。
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9
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