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...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Prif Awduron: 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
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Public Library of Science 2012
Pynciau:
Research Article
Mynediad Ar-lein: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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