Inherited ichthyoses/generalized Mendelian disorders of cornification

Inherited ichthyoses, defined as the generalized form of Mendelian disorders of cornification, are characterized by visible scaling and/or hyperkeratosis of most or all of the skin. This etiologically and phenotypically heterogenous group of conditions is caused by mutations in various different gen...

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Bibliografiske detaljer
Main Authors: Schmuth, Matthias, Martinz, Verena, Janecke, Andreas R, Fauth, Christine, Schossig, Anna, Zschocke, Johannes, Gruber, Robert
Format: Artigo
Sprog:Inglês
Udgivet: Nature Publishing Group 2013
Fag:
Practical Genetics
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3548255/
https://ncbi.nlm.nih.gov/pubmed/22739337
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.121
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