Identification of the first nonsenseCDSNmutation with expression of a truncated protein causing peeling skin syndrome type B

Acral Peeling Skin Syndrome Resulting from a Homozygous Nonsense Mutation in theCSTAGene Encoding Cystatin A

(2013) Aleksandar L. Krunic et al.   PEDIATRIC DERMATOLOGY

Whole-exome sequencing in a single proband reveals a mutation in the CHST8 gene in autosomal recessive peeling skin syndrome

(2012) Rita M. Cabral et al.   GENOMICS

Inflammatory peeling skin syndrome caused a novel mutation in CDSN

(2011) Dana Fuchs Telem et al.   ARCHIVES OF DERMATOLOGICAL RESEARCH

A novel mutation in CDSN causes peeling skin disease in a patient from Morocco

(2011) J. Mazereeuw-Hautier et al.   BRITISH JOURNAL OF DERMATOLOGY

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

(2010) Vinzenz Oji et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A new amyloidosis caused by fibrillar aggregates of mutated corneodesmosin

(2010) Cécile Caubet et al.   FASEB JOURNAL

Inflammatory Peeling Skin Syndrome Caused by a Mutation in CDSN Encoding Corneodesmosin

(2010) Shirli Israeli et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction

(2009) E. A. Leclerc et al.   JOURNAL OF CELL SCIENCE