Cutaneous glomuvenous malformations in a family with dual and mutations: Case report and considerations.
作者信息
Chen Helen Z, Zuberi Hafsa, Beasley Julie, Stetson Cloyce L, Paulger Brent
机构信息
Department of Dermatology, Texas Tech University Health Sciences Center, Lubbock, Texas.
School of Medicine, Texas Tech University Health Sciences Center, Lubbock, Texas.
出版信息
JAAD Case Rep. 2025 Aug 5;64:33-36. doi: 10.1016/j.jdcr.2025.07.009. eCollection 2025 Oct.
Abstract
摘要
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本文引用的文献
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Variants in Pediatric and Young Adult Thyroid Nodules.小儿及青年甲状腺结节的变异。
Thyroid. 2024 Oct;34(10):1225-1233. doi: 10.1089/thy.2024.0188. Epub 2024 Sep 27.
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Sertoli-Leydig cell tumor with mutation.伴有突变的支持-间质细胞瘤
Gynecol Oncol Rep. 2024 Feb 28;52:101353. doi: 10.1016/j.gore.2024.101353. eCollection 2024 Apr.
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DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review.DICER1综合征：多中心手术经验及系统评价
Cancers (Basel). 2023 Jul 19;15(14):3681. doi: 10.3390/cancers15143681.
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causing vascular malformations: the clinical and genetic differentiation of cutaneous venous malformations.导致血管畸形：皮肤静脉畸形的临床和遗传分化。
BMJ Case Rep. 2022 Jun 22;15(6):e246114. doi: 10.1136/bcr-2021-246114.
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Glomuvenous Malformation of the Neck.颈部球静脉畸形
Int J Angiol. 2020 Dec;29(4):267-271. doi: 10.1055/s-0039-1694059. Epub 2019 Aug 6.
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Glomuvenous Malformation: A Rare Periorbital Lesion of the Thermoregulatory Apparatus.球静脉畸形：一种罕见的眶周温度调节装置病变。
Ophthalmic Plast Reconstr Surg. 2017 Mar/Apr;33(2):e36-e37. doi: 10.1097/IOP.0000000000000695.
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Glomuvenous Malformations (Familial generalized multiple glomangiomas).
Dermatol Online J. 2011 Oct 15;17(10):9.
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Four common glomulin mutations cause two thirds of glomuvenous malformations ("familial glomangiomas"): evidence for a founder effect.四种常见的球管蛋白突变导致三分之二的球静脉畸形（“家族性血管球瘤”）：存在奠基者效应的证据。
J Med Genet. 2005 Feb;42(2):e13. doi: 10.1136/jmg.2004.024174.
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