Associated Papers
Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.
Ansh AJ et al.
Bone, 2024
Guidance for estimating penetrance of monogenic disease-causing variants in population cohorts.
Wright CF et al.
Nature Genetics, 2024
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
Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of the ENPP1 gene: necessary, but not always sufficient.
Schlipf NA et al.
The British Journal of Dermatology, 2016
Cole Disease Results from Mutations in ENPP1.
Eytan O et al.
American Journal of Human Genetics, 2013
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