Mutations in POFUT1, Encoding Protein O-fucosyltransferase 1, Cause Generalized Dowling-Degos Disease

Author:

Li Ming,Cheng Ruhong,Liang Jianying,Yan Heng,Zhang Hui,Yang Lijia,Li Chengrang,Jiao Qingqing,Lu Zhiyong,He Jianhui,Ji Jin,Shen Zhu,Li Chunqi,Hao Fei,Yu Hong,Yao Zhirong

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference37 articles.

1. Acanthosis Nigricans;Dowling;Proc. R. Soc. Med.,1938

2. [Reticulated pigmentary dermatosis of the folds: relation to acanthosis nigricans];Degos;Ann. Dermatol. Syphiligr. (Paris),1954

3. A gene locus responsible for reticulate pigmented anomaly of the flexures maps to chromosome 17p13.3;Li;J. Invest. Dermatol.,2006

4. Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease;Betz;Am. J. Hum. Genet.,2006

5. Dowling-Degos disease presenting as hypopigmented macules;Pickup;J. Am. Acad. Dermatol.,2011

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