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Autoimmune hemolytic anemia associated with Takenouchi-Kosaki syndrome.

作者信息

Ishikawa Kotaro, Uchiyama Toru, Kaname Tadashi, Kawai Toshinao, Ishiguro Akira

机构信息

Center for Postgraduate Education and Training, National Center for Child Health and Development (NCCHD), Tokyo, Japan.

Department of Human Genetics, NCCHD, Tokyo, Japan.

出版信息

Pediatr Int. 2021 Dec;63(12):1528-1530. doi: 10.1111/ped.14651. Epub 2021 Aug 17.

DOI:10.1111/ped.14651
PMID:34403170
Abstract
摘要

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Nat Chem Biol. 2025 Aug 22. doi: 10.1038/s41589-025-02010-2.
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Auditory and Language Abilities in Children with Takenouchi-Kosaki Syndrome: A Systematic Review.突井小夜子综合征患儿的听觉和语言能力：系统评价。
Genes (Basel). 2024 Jul 24;15(8):974. doi: 10.3390/genes15080974.
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The clinical phenotype with gastrostomy and abdominal wall infection in a pediatric patient with Takenouchi-Kosaki syndrome due to a heterozygous c.191A > G (p.Tyr64Cys) variant in : a case report.
一名因杂合性c.191A＞G（p.Tyr64Cys）变异导致竹内-小崎综合征的儿科患者出现胃造口术和腹壁感染的临床表型：病例报告
Front Genet. 2023 Jun 6;14:1108852. doi: 10.3389/fgene.2023.1108852. eCollection 2023.
4
Splenectomy as an effective treatment for macrothrombocytopenia in Takenouchi-Kosaki syndrome.脾切除术作为竹内 - 小崎综合征中巨血小板减少症的有效治疗方法。
Int J Hematol. 2023 Apr;117(4):622-625. doi: 10.1007/s12185-022-03491-w. Epub 2022 Dec 2.