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A Novel TTC37 Mutation Causing Clinical Symptoms of Trichohepatoenteric Syndrome Such as Pyoderma Gangrenosum and Immunodeficiency Without Severe Diarrhea.

作者信息

Karaca Edeer N, Aykut A, Pariltay E, Aksu G, Cogulu O, Kutukculer N

机构信息

Ege University Faculty of Medicine, Department of Pediatrics, Izmir, Turkey.

Ege University Faculty of Medicine, Department of Medical Genetics, Izmir, Turkey.

出版信息

J Investig Allergol Clin Immunol. 2019;29(5):396-398. doi: 10.18176/jiaci.0418. Epub 2019 May 27.

DOI:10.18176/jiaci.0418
PMID:31132033
Abstract
摘要

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引用本文的文献

1
Human Inborn Errors of Immunity in Pyoderma Gangrenosum: A Systematic Review.脓疱性坏疽性皮肤病中的人类先天性免疫缺陷：系统评价。
Am J Clin Dermatol. 2024 Sep;25(5):701-716. doi: 10.1007/s40257-024-00875-y. Epub 2024 Jul 1.
2
Dual Diagnosis of Trichohepatoenteric Syndrome and Lipoid Proteinosis in a Turkish Child.一名土耳其儿童毛发肝肠综合征与类脂蛋白沉积症的双重诊断
Mol Syndromol. 2023 Dec;14(6):504-508. doi: 10.1159/000531408. Epub 2023 Aug 7.
3
Novel mutations in a patient with Trichohepatoenteric syndrome: a case report and literature review.
毛发肝肠综合征患者的新突变：病例报告及文献综述
Transl Pediatr. 2022 Jun;11(6):1050-1057. doi: 10.21037/tp-21-574.
4
Case Report: A Novel Homozygous Frameshift Mutation of the Gene in a Trichohepatoenteric Syndrome Patient Presenting With Short Stature, Premature Ovarian Failure, and Osteoporosis.病例报告：一名毛发肝肠综合征患者出现身材矮小、卵巢早衰和骨质疏松，该基因存在一种新型纯合移码突变。
Front Genet. 2022 Apr 27;13:879899. doi: 10.3389/fgene.2022.879899. eCollection 2022.