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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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Detalhes bibliográficos
Publicado no:Orphanet J Rare Dis
Main Authors: Borská, Romana, Pinková, Blanka, Réblová, Kamila, Bučková, Hana, Kopečková, Lenka, Němečková, Jitka, Puchmajerová, Alena, Malíková, Marcela, Hermanová, Markéta, Fajkusová, Lenka
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Acesso em linha: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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