Associated Papers
Binding of the periplakin linker requires vimentin acidic residues D176 and E187.
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32081916 (PubMed )
Supplement: 42003_2020_810_MOESM1_ESM.pdf
Skin fragility, woolly hair syndrome with a desmoplakin mutation - a case from India.
Peter DCV et al.
International Journal of Dermatology, 2018
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
26112015 (PubMed )
Supplement: 13059_2015_693_MOESM1_ESM.xls › Sheet1
Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair.
Smith FJ et al.
The British Journal of Dermatology, 2012
Novel homozygous mutation in DSP causing skin fragility-woolly hair syndrome: report of a large family and review of the desmoplakin-related phenotypes.
Al-Owain M et al.
Clinical Genetics, 2011
Novel Compound Heterozygous Variants of DSP Causing Skin Fragility-Woolly Hair Syndrome: A Rare Case Report and Literature Review.
Yang M et al.
Case Reports in Dermatology, 0
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