Associated Papers
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.
Akbar A et al.
Bmc Medical Genetics, 2019
31443639 (PubMed )
Supplement: 12881_2019_872_MOESM1_ESM.docx
Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.
Schlipf NA et al.
The British Journal of Dermatology, 2016
A novel homozygous frameshift mutation in DSG1 gene in an Indian consanguineous family with severe dermatitis, multiple allergies and metabolic wasting syndrome.
Srinivas SM et al.
Indian Journal of Dermatology, Venereology and Leprology, 0
SAM Syndrome Presenting With Pulmonary Stenosis: A Case Report and Literature Review.
Balan BK et al.
Pediatric Dermatology, 0
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