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Complex crosstalk: early-onset lupus and antiphospholipid syndrome in a child with SHOC2-related RASopathy.

作者信息

Menentoğlu Bengisu, Konur Akbaş Esma Nur, Kavrul Kayaalp Gülşah, Akgün Özlem, Aslanger Ayça Dilruba, Uyguner Zehra Oya, Aktay Ayaz Nuray

机构信息

Division of Pediatric Rheumatology, Department of Pediatrics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye.

Department of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Türkiye.

出版信息

Rheumatology (Oxford). 2025 Aug 1;64(8):4852-4853. doi: 10.1093/rheumatology/keaf144.

DOI:10.1093/rheumatology/keaf144
PMID:40085019
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12316367/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2f6/12316367/2fc5b18bc32d/keaf144f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2f6/12316367/2fc5b18bc32d/keaf144f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/b2f6/12316367/2fc5b18bc32d/keaf144f1.jpg

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本文引用的文献

1
Monogenic systemic lupus erythematosus onset in a 13-year-old boy with Noonan like-syndrome: a case report and literature review.13 岁男性患儿，以 Noonan 样综合征起病的单基因系统性红斑狼疮：病例报告及文献复习
Pediatr Rheumatol Online J. 2024 Jan 18;22(1):17. doi: 10.1186/s12969-023-00939-z.
2
Managing Lupus Nephritis in Children and Adolescents.儿童和青少年狼疮肾炎的管理。
Paediatr Drugs. 2024 Mar;26(2):145-161. doi: 10.1007/s40272-023-00609-3. Epub 2023 Dec 20.
3
New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond.
系统性红斑狼疮及狼疮样疾病遗传病因学的新视野：单基因狼疮及其他。
J Clin Med. 2020 Mar 5;9(3):712. doi: 10.3390/jcm9030712.
4
Systemic lupus erythematosus in a patient with Noonan syndrome-like disorder with loose anagen hair 1: More than a chance association.患有努南综合征样疾病伴生长期松动毛发的患者出现系统性红斑狼疮1：不仅仅是偶然关联。
Am J Med Genet A. 2018 Jul;176(7):1662-1666. doi: 10.1002/ajmg.a.38834. Epub 2018 May 7.
5
Childhood-Onset Systemic Lupus Erythematosus: A Review and Update.儿童期起病的系统性红斑狼疮：综述与更新
J Pediatr. 2018 May;196:22-30.e2. doi: 10.1016/j.jpeds.2018.01.045.
6
Are RASopathies new monogenic predisposing conditions to the development of systemic lupus erythematosus? Case report and systematic review of the literature.RASopathy 是否是系统性红斑狼疮发生的新的单基因易患条件？病例报告和文献系统回顾。
Semin Arthritis Rheum. 2013 Oct;43(2):217-9. doi: 10.1016/j.semarthrit.2013.04.009. Epub 2013 Jun 17.
7
Autoimmune disease and multiple autoantibodies in 42 patients with RASopathies.42 例 RAS 通路相关疾病患者的自身免疫性疾病和多种自身抗体。
Am J Med Genet A. 2012 May;158A(5):1077-82. doi: 10.1002/ajmg.a.35290. Epub 2012 Apr 9.
8
Clinical and molecular analysis of RASopathies in a group of Turkish patients.一组土耳其患者中 RAS opathy 的临床和分子分析。
Clin Genet. 2013 Feb;83(2):181-6. doi: 10.1111/j.1399-0004.2012.01875.x. Epub 2012 Apr 9.
9
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.Noonan 综合征和具有疏松型生长期毛发的 Noonan 样综合征的转录特征。
Hum Mutat. 2012 Apr;33(4):703-9. doi: 10.1002/humu.22026. Epub 2012 Feb 14.