A Japanese case of Vörner‐type palmoplantar keratoderma caused by a novel <scp>KRT1</scp> variant-Reference-Cited by-同舟云学术

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A Japanese case of Vörner‐type palmoplantar keratoderma caused by a novel KRT1 variant

Published:2023-04-30 Issue:9 Volume:50 Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Nakamizo Satoshi¹^ORCID,Murata Teruasa²,Ishida Yoshihiro¹^ORCID,Aoki Satomi³,Sasaki Takashi⁴,Kubo Akiharu³⁵,Kabashima Kenji¹

Affiliation:

1. Department of Dermatology Kyoto University Graduate School of Medicine Kyoto Japan

2. Department of Dermatology Hyogo College of Medicine Nishinomiya Japan

3. Department of Dermatology Keio University School of Medicine Shinjuku Japan

4. Center for Supercentenarian Medical Research Keio University School of Medicine Shinjuku Japan

5. Division of Dermatology, Department of Internal Related Kobe University Graduate School of Medicine Kobe Japan

Publisher

Wiley

Subject

Dermatology,General Medicine

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.16815

Reference5 articles.

1. Exploring human genomic diversity with gnomAD

2. Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene

3. The X-Ray Crystal Structure of the Keratin 1-Keratin 10 Helix 2B Heterodimer Reveals Molecular Surface Properties and Biochemical Insights into Human Skin Disease

4. Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree

5. Naxos disease: Cardiocutaneous syndrome due to cell adhesion defect

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