Associated Papers
Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.
Ansh AJ et al.
Bone, 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
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
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