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Novel nonsense variants in SLURP1 and DSG1 cause palmoplantar keratoderma in Pakistani families
BACKGROUND: Inherited palmoplantar keratodermas (PPKs) are clinically and genetically heterogeneous and phenotypically diverse group of genodermatoses characterized by hyperkeratosis of the palms and soles. More than 20 genes have been reported to be associated with PPKs including desmoglein 1 (DSG1...
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| Publicado no: | BMC Med Genet |
|---|---|
| Main Authors: | , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6708247/ https://ncbi.nlm.nih.gov/pubmed/31443639 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-019-0872-1 |
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