Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations-Reference-Cited by-全球学者库

Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations

Published:2021-10-27 Issue: Volume: Page:
ISSN:0926-9959
Container-title:Journal of the European Academy of Dermatology and Venereology
language:en
Short-container-title:J Eur Acad Dermatol Venereol

Author:

Takeuchi S.¹^ORCID,Takeichi T.¹^ORCID,Koike Y.²^ORCID,Takama H.³,Tanahashi K.¹,Okuno Y.⁴⁵⁶,Ishii N.⁷,Muro Y.¹^ORCID,Ogi T.⁸,Suga Y.⁹,Akiyama M.¹^ORCID

Affiliation:

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

2. Department of Dermatology Nagasaki University Graduate School of Biomedical Sciences Nagasaki Japan

3. Department of Dermatology Aichi Medical University Nagakute Japan

4. Medical Genomics Center Nagoya University Hospital Nagoya Japan

5. Department of Pediatrics Nagoya University Graduate School of Medicine Nagoya Japan

6. Department of Virology Nagoya City University Graduate School of Medical Sciences Nagoya Japan

7. Department of Dermatology Kurume University School of Medicine Fukuoka Japan

8. Department of Genetics Research Institute of Environmental Medicine Nagoya University Nagoya Japan

9. Department of Dermatology Juntendo University Urayasu Hospital Urayasu Japan

Funder

Hori Sciences and Arts Foundation

Japanese Dermatological Association

Japan Society for the Promotion of Science

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jdv.17752

Reference10 articles.

1. N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma

2. Mutations in desmoglein 1 cause diverse inherited palmoplantar keratoderma phenotypes: implications for genetic screening

3. Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

4. Differential Pathomechanisms of Desmoglein 1 Transmembrane Domain Mutations in Skin Disease

5. Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation

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