Alteration of Liver Enzymes Is a Feature of the Myh9-Related Disease Syndrome

BACKGROUND: MYH9-related disease (MYH9-RD) is a rare autosomal dominant genetic syndrome characterized by congenital thrombocytopenia associated with the risk of developing progressive nephropathy, sensorineural deafness, and presenile cataract. During the collection of a large case-series of patien...

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Autors principals: Pecci, Alessandro, Biino, Ginevra, Fierro, Tiziana, Bozzi, Valeria, Mezzasoma, Annamaria, Noris, Patrizia, Ramenghi, Ugo, Loffredo, Giuseppe, Fabris, Fabrizio, Momi, Stefania, Magrini, Umberto, Pirastu, Mario, Savoia, Anna, Balduini, Carlo, Gresele, Paolo
Format: Artigo
Idioma:Inglês
Publicat: Public Library of Science 2012
Matèries:
Research Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3338476/
https://ncbi.nlm.nih.gov/pubmed/22558294
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0035986
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