Associated Papers
Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
Ralph D et al.
Human Mutation, 2022
Cole disease due to a novel pathogenic variant in the ENPP1 gene.
Nanda A et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022
Hyperpigmentation in a Chinese family with autosomal dominant Cole disease.
Li Z et al.
Experimental Dermatology, 2022
A novel ENPP1 mutation identified in a multigenerational family affected by Cole disease.
Gabaton N et al.
Pediatric Dermatology, 2020
The genetic basis of pachyonychia congenita.
Smith FJ et al.
The Journal of Investigative Dermatology. Symposium Proceedings, 2005
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