Associated Papers
Disruption of TUFT1, a Desmosome-Associated Protein, Causes Skin Fragility, Woolly Hair, and Palmoplantar Keratoderma.
Verkerk AJMH et al.
The Journal of Investigative Dermatology, 2024
Background splicing as a predictor of aberrant splicing in genetic disease.
Alexieva D et al.
Rna Biology, 2022
35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index
Ectodermal dysplasia-skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis.
Doolan BJ et al.
Experimental Dermatology, 2020
Ectodermal dysplasia-skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene.
Boyce AE et al.
The Australasian Journal of Dermatology, 2012
Compensatory signals associated with the activation of human GC 5' splice sites.
Kralovicova J et al.
Nucleic Acids Research, 2011
Ectodermal dysplasia-skin fragility syndrome.
McGrath JA et al.
Dermatologic Clinics, 2010
Genetic diseases of junctions.
Lai-Cheong JE et al.
The Journal of Investigative Dermatology, 2007
Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.
Ersoy-Evans S et al.
Journal of the American Academy of Dermatology, 2006
Cryptic splicing at a non-consensus splice-donor in a patient with a novel mutation in the plakophilin-1 gene.
Steijlen PM et al.
The Journal of Investigative Dermatology, 2004
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