Palmoplantar keratoderma with deafness due to <scp> <i>GJB2</i> </scp> mutation can develop ichthyosiform symptoms: a case report-Reference-Cited by-同舟云学术

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Palmoplantar keratoderma with deafness due to GJB2 mutation can develop ichthyosiform symptoms: a case report

Published:2022-04-27 Issue:9 Volume:36 Page:
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:Acad Dermatol Venereol

Author:

Kimura A.¹^ORCID,Miyauchi T.¹^ORCID,Peh J.T.¹,Yanagi T.¹^ORCID,Hasegawa S.²,Morita S.³,Ujiie H.¹^ORCID

Affiliation:

1. Department of Dermatology, Faculty of Medicine and Graduate School of Medicine Hokkaido University Sapporo Japan

2. Higashikariki Dermatology Clinic Sapporo Japan

3. Department of Otolaryngology‐Head & Neck Surgery, Faculty of Medicine and Graduate School of Medicine Hokkaido University Sapporo Japan

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.18135

Reference8 articles.

1. Connexin-26 mutations in deafness and skin disease

2. Characterization of Spectrum, de novo Rate and Genotype-Phenotype Correlation of Dominant GJB2 Mutations in Chinese Hans

3. Connexin channels in congenital skin disorders

4. Autosomal dominant prelingual hearing loss with Palmoplantar Keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene

5. A de novo GJB2 (connexin 26) mutation, R75W, in a Chinese pedigree with hearing loss and palmoplantar keratoderma

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