Varaico: Literature-Extracted Genetic Variants

Gene:CDSN
Variant:p.C55_L56insFs
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CDSN

NM_001264.5:p.C55_L56insFs

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

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

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

Inflammatory peeling skin syndrome caused a novel mutation in CDSN.

Telem DF et al.

Archives of Dermatological Research, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."