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Inherited ichthyoses: molecular causes of the disease in Czech patients

Inherited ichthyoses belong to a large and heterogeneous group of mendelian disorders of cornification, and can be distinguished by the quality and distribution of scaling and hyperkeratosis, by other dermatologic and extracutaneous involvement, and by inheritance. We present the genetic analysis re...

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Detalles Bibliográficos
Publicado en:Orphanet J Rare Dis
Autores principales: Borská, Romana, Pinková, Blanka, Réblová, Kamila, Bučková, Hana, Kopečková, Lenka, Němečková, Jitka, Puchmajerová, Alena, Malíková, Marcela, Hermanová, Markéta, Fajkusová, Lenka
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2019
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Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC6498588/
https://ncbi.nlm.nih.gov/pubmed/31046801
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1076-7
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