Associated Papers
Identification of a novel compound heterozygous mutation and a homozygous mutation of SLURP1 in Chinese families with Mal de Meleda.
Wang T et al.
Bmc Medical Genomics, 2023
In-silico Analyses of Disease Causing Mutations in SLURP1 Gene.
Jafar Hussain HM et al.
Annals of Clinical and Laboratory Science, 2019
Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families.
Akbar A et al.
Bmc Medical Genetics, 2019
31443639 (PubMed )
Supplement: 12881_2019_872_MOESM1_ESM.docx
Japanese case of Mal de Meleda with a novel missense mutation of p.Thr52Ala in the second protruding finger of secreted Ly-6/uPAR-related protein 1.
Kunisada M et al.
The Journal of Dermatology, 2019
Identification of novel homozygous SLURP1 mutation in a Javanese family with Mal de Meleda.
Radiono S et al.
International Journal of Dermatology, 2017
Hereditary palmoplantar keratoderma "clinical and genetic differential diagnosis".
Sakiyama T et al.
The Journal of Dermatology, 2016
Mal de Meleda: A Focused Review.
Perez C et al.
American Journal of Clinical Dermatology, 2016
Palmoplantar keratoderma of the Gamborg-Nielsen type is caused by mutations in the SLURP1 gene and represents a variant of Mal de Meleda.
Zhao L et al.
Acta Dermato-venereologica, 2014
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