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
Report of Chinese family with severe dermatitis, multiple allergies and metabolic wasting syndrome caused by novel homozygous desmoglein-1 gene mutation.
Cheng R et al.
The Journal of Dermatology, 2016
Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.
Schlipf NA et al.
The British Journal of Dermatology, 2016
SAM Syndrome Presenting With Pulmonary Stenosis: A Case Report and Literature Review.
Balan BK et al.
Pediatric Dermatology, 0
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