Associated Papers
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.
Gram SB et al.
Jama Dermatology, 2025
Striate palmoplantar keratoderma: a novel DSG1 mutation, combined with an LDLR mutation.
He L et al.
Genes & Genomics, 2025
First observation of dupilumab efficacy in an infant with SAM (severe dermatitis, multiple allergies and metabolic wasting) syndrome.
Körner RW et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2023
Translational implications of Th17-skewed inflammation due to genetic deficiency of a cadherin stress sensor.
Godsel LM et al.
The Journal of Clinical Investigation, 2022
Secukinumab for the treatment of SAM syndrome associated with desmoglein-1 deficiency.
Frommherz LH et al.
The British Journal of Dermatology, 2021
The Role of Desmoglein 1 in Gap Junction Turnover Revealed through the Study of SAM Syndrome.
Cohen-Barak E et al.
The Journal of Investigative Dermatology, 2020
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
SAM syndrome is characterized by extensive phenotypic heterogeneity.
Taiber S et al.
Experimental Dermatology, 2018
Whole-exome sequencing identifies novel autosomal recessive DSG1 mutations associated with mild SAM syndrome.
Schlipf NA et al.
The British Journal of Dermatology, 2016
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
27219052 (PubMed )
Supplement: pone.0155552.s003.pdf
Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies.
Has C et al.
The British Journal of Dermatology, 2015
[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects].
Kamaleswaran S et al.
Ugeskrift for Laeger, 2014
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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