A case of <scp>Hailey‐Hailey</scp> disease with novel <i>ATP2C1</i> gene variant (c.<scp>G925C</scp>) showing unusual phenotype-Reference-Cited by-同舟云学术

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A case of Hailey‐Hailey disease with novel ATP2C1 gene variant (c.G925C) showing unusual phenotype

Published:2024-05-06 Issue: Volume: Page:
ISSN:0385-2407
Container-title:The Journal of Dermatology
language:en
Short-container-title:The Journal of Dermatology

Author:

Minakawa Satoko¹²^ORCID,Matsuzaki Yasushi¹^ORCID,Higashino Toshihide³^ORCID,Yamada Nanako⁴,Suzuki Tamio⁵,Akasaka Eijiro¹,Sawamura Daisuke¹

Affiliation:

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

2. Department of Clinical Laboratory Hirosaki University Graduate School of Medicine Hirosaki Japan

3. Department of Human Genetics, Graduate School of Medicine The University of Tokyo Tokyo Japan

4. Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Faculty of Medicine Tottori University Yonago Japan

5. Department of Dermatology, Faculty of Medicine Yamagata University Yamagata Japan

Publisher

Wiley

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/1346-8138.17258

Reference5 articles.

1. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

2. How do keratinizing disorders and blistering disorders overlap?

3. THE NATURE AND PATHOGENESIS OF DYSKERATOSIS IN HAILEY-HAILEY'S DISEASE AND DARIER'S DISEASE

4. Hailey-Hailey Disease: Molecular and Clinical Characterization of Novel Mutations in the ATP2C1 Gene

5. Hailey-Hailey disease: a widespread abnormality of cell adhesion

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