Cole disease due to a novel pathogenic variant in the ENPP1 gene
Author:
Affiliation:
1. As’ad Al‐Hamad Dermatology Center Kuwait
2. Institute of Human Genetics University of Bonn, Medical Faculty & University Hospital Bonn Germany
Publisher
Wiley
Subject
Infectious Diseases,Dermatology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.18028
Reference8 articles.
1. Hypopigmentation With Punctate Keratosis of the Palms and Soles
2. Cole Disease: Hypopigmentation with Punctate Keratosis of the Palms and Soles
3. Cole Disease Results from Mutations in ENPP1
4. Cole disease: a case report and literature review
5. Association of Cole disease with novel heterozygous mutations in the somatomedin-B domains of theENPP1gene: necessary, but not always sufficient
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1. Confocal microscopy and optical coherence tomography of inflammatory skin diseases in hairs and pilosebaceous units: A systematic review;Experimental Dermatology;2023-05-04
2. Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma;Human Mutation;2022-05-18
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