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Novel deletion of the POFUT1 gene associated with multiple seborrheic keratosis Dowling–Degos disease
Yusha Chen,
Yusha Chen
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Search for more papers by this author Zhongtao Li,
Zhongtao Li
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Search for more papers by this author Deyu Song,
Deyu Song
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Search for more papers by this author Sheng Wang,
Corresponding Author
Sheng Wang
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Correspondence
Sheng Wang, Department of Dermatology, West China Hospital, Sichuan University, No.37 Guoxue Alley, Wuhou Distrct, Chengdu 610041, China.
Email: [email protected]
Search for more papers by this author
Yusha Chen,
Yusha Chen
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Search for more papers by this author Zhongtao Li,
Zhongtao Li
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Search for more papers by this author Deyu Song,
Deyu Song
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Search for more papers by this author Sheng Wang,
Corresponding Author
Sheng Wang
Department of Dermatology, West China Hospital, Sichuan University, Chengdu, China
Correspondence
Sheng Wang, Department of Dermatology, West China Hospital, Sichuan University, No.37 Guoxue Alley, Wuhou Distrct, Chengdu 610041, China.
Email: [email protected]
Search for more papers by this author
First published: 15 September 2021
No abstract is available for this article.
CONFLICT OF INTEREST
None declared.
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REFERENCES
- 1Li M, Cheng R, Liang J, Yan H, Zhang H, Yang L, et al. Mutations in POFUT1, encoding protein O-fucosyltransferase 1, cause generalized Dowling-Degos disease. Am J Hum Genet. 2013; 92: 895–903.
- 2Guedes R, Leite L. Coexistence of vulvar dowling-degos disease and seborrhoeic keratosis. Case Rep Med. 2011; 2011: 1–3.
- 3Matsumoto K, Luther KB, Haltiwanger RS. Diseases related to Notch glycosylation. Mol Aspects Med. 2021; 79: 100938.
- 4González-Villanueva I, Gutiérrez M, Hispán P, Betlloch I, Pascual JC. Novel POFUT1 mutation associated with hidradenitis suppurativa-Dowling-Degos disease firm up a role for Notch signalling in the pathogenesis of this disorder. Br J Dermatol. 2018; 178: 984–6.
- 5García-Gil MF, Monte Serrano J, Ramirez-Lluch M, Valero Torres A, López-Giménez MT, Lezcano BV. A novel mutation in POFUT1 gene associated with Dowling-Degos disease and hidradenitis suppurativa. Int J Dermatol. 2021; 60: e25–7.