Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Romana Borska"'
Publikováno v:
Biomedical Papers, Vol 164, Iss 4, Pp 357-365 (2020)
Congenital ichthyoses are a very heterogeneous group of diseases manifested by dry, rough and scaling skin. In all forms of ichthyoses, the skin barrier is damaged to a certain degree. Congenital ichthyoses are caused by various gene mutations. Clini
Externí odkaz:
https://doaj.org/article/7fa64350f8b04136a7aa3025760df136
Autor:
Romana Borská, Blanka Pinková, Kamila Réblová, Hana Bučková, Lenka Kopečková, Jitka Němečková, Alena Puchmajerová, Marcela Malíková, Markéta Hermanová, Lenka Fajkusová
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-5 (2019)
Abstract 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 involvem
Externí odkaz:
https://doaj.org/article/43bc9ac616384e6fadfac80169ee5993
Autor:
Dagmar Procházková, Romana Borská, Lenka Fajkusová, Petra Konečná, Eliška Hloušková, Zdeněk Pavlovský, Ondřej Slabý, Šárka Pospíšilová
Publikováno v:
Diagnostics, Vol 11, Iss 6, p 983 (2021)
Background: Alagille syndrome (ALGS) is a highly variable multisystem disorder inherited in an autosomal dominant pattern with incomplete penetration. The disorder is caused by mutations in the JAG1 gene, only rarely in the NOTCH2 gene, which gives r
Externí odkaz:
https://doaj.org/article/f2e3bf17599b465ba2e9d73b86d9b2fa