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A Case of Schimke Immunoosseous Dysplasia Caused by Large Deletion of Gene.

作者信息

Malhotra Rakhi, Sharma Mandeep, Dwivedi Aradhana, Kalra Suprita

机构信息

Department of Endocrinology and Metabolism, Army Hospital (Research and Referral), New Delhi, India.

Division of Genetics, Department of Pediatrics, Army Hospital (Research and Referral), New Delhi, India.

出版信息

Indian J Endocrinol Metab. 2021 Jul-Aug;25(4):358-360. doi: 10.4103/ijem.ijem_148_21. Epub 2021 Dec 15.

DOI:10.4103/ijem.ijem_148_21
PMID:35136747
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8793958/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fac6/8793958/c3d4fe953cf5/IJEM-25-358-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fac6/8793958/2cba14cfbf76/IJEM-25-358-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fac6/8793958/c3d4fe953cf5/IJEM-25-358-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fac6/8793958/2cba14cfbf76/IJEM-25-358-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/fac6/8793958/c3d4fe953cf5/IJEM-25-358-g002.jpg

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T-cell receptor signaling in Schimke immuno-osseous dysplasia is SMARCAL1-independent.

本文引用的文献

1
Clinical course of post-kidney transplant Schimke immuno-osseous dysplasia.肾移植后 Schimke 免疫骨发育不良的临床病程。
Pediatr Transplant. 2023 Dec;27(8):e14605. doi: 10.1111/petr.14605. Epub 2023 Sep 11.
2
Low renal but high extrarenal phenotype variability in Schimke immuno-osseous dysplasia.施姆克免疫性骨发育不良中肾脏表型变异性低但肾外表型变异性高。
PLoS One. 2017 Aug 10;12(8):e0180926. doi: 10.1371/journal.pone.0180926. eCollection 2017.
3
Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia.
施米克免疫骨发育不良中的 T 细胞受体信号转导不依赖于 SMARCAL1。
Front Immunol. 2022 Oct 18;13:979722. doi: 10.3389/fimmu.2022.979722. eCollection 2022.
突变的染色质重塑蛋白SMARCAL1导致希姆克免疫性骨发育不良。
Nat Genet. 2002 Feb;30(2):215-20. doi: 10.1038/ng821. Epub 2002 Jan 22.
4
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.施姆克免疫性骨发育不良的临床表现与治疗：14例新病例及文献综述
Eur J Pediatr. 2000 Jan-Feb;159(1-2):1-7. doi: 10.1007/s004310050001.