Associated Papers
A case of peeling skin syndrome type 1 with novel CDSN gene variation successfully treated with upadacitinib.
Chen Y et al.
The Journal of Dermatology, 2025
Deep resequencing identifies candidate functional genes in leprosy GWAS loci.
Fava VM et al.
Plos Neglected Tropical Diseases, 2021
Mutations in the CDSN gene cause peeling skin disease and hypotrichosis simplex of the scalp.
van der Velden JJAJ et al.
The Journal of Dermatology, 2020
Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Rivas MA et al.
Plos Genetics, 2018
RXRB Is an MHC-Encoded Susceptibility Gene Associated with Anti-Topoisomerase I Antibody-Positive Systemic Sclerosis.
Oka A et al.
The Journal of Investigative Dermatology, 2017
Identification of polymorphisms in 12q24.1, ACAD10, and BRAP as novel genetic determinants of blood pressure in Japanese by exome-wide association studies.
Yamada Y et al.
Oncotarget, 2017
A Case of Inflammatory Generalized Type of Peeling Skin Syndrome Possibly Caused by a Homozygous Missense Mutation of CDSN.
Kawakami H et al.
Case Reports in Dermatology, 2014
Exome sequencing reveals comprehensive genomic alterations across eight cancer cell lines.
Chang H et al.
Plos One, 2011
21701589 (PubMed )
Supplement: pone.0021097.s002.xls › gtl16_f40r3
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