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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Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2019
Fag:
Letter to the Editor
Online adgang: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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