Mutations in SAM syndrome and palmoplantar keratoderma patients suggest genotype/phenotype correlations in DSG1 mutations
J Eur Acad Dermatol Venereol
.
2022 Mar;36(3):e215-e218.
doi: 10.1111/jdv.17752.
Epub 2021 Oct 27.
Authors
S Takeuchi
1
,
T Takeichi
1
,
Y Koike
2
,
H Takama
3
,
K Tanahashi
1
,
Y Okuno
4
5
6
,
N Ishii
7
,
Y Muro
1
,
T Ogi
8
,
Y Suga
9
,
M Akiyama
1
Affiliations
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.
PMID:
34657339
DOI:
10.1111/jdv.17752
No abstract available
Publication types
Letter
MeSH terms
Desmoglein 1* / genetics
Genetic Association Studies
Genotype
Humans
Keratoderma, Palmoplantar* / genetics
Mutation
Pedigree
Phenotype
Substances
DSG1 protein, human
Desmoglein 1
Grants and funding
Hori Sciences and Arts Foundation
Maruho Takagi Dermatology Foundation
Japanese Dermatological Association
20FC1052/Ministry of Health, Labor and Welfare of Japan
21H02941/Japan Society for the Promotion of Science
20K08648/Japan Society for the Promotion of Science