Cargando…
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...
Autores principales: | 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 |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2012
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3338476/ https://www.ncbi.nlm.nih.gov/pubmed/22558294 http://dx.doi.org/10.1371/journal.pone.0035986 |
Ejemplares similares
-
Platelet size for distinguishing between inherited thrombocytopenias and immune thrombocytopenia: a multicentric, real life study
por: Noris, Patrizia, et al.
Publicado: (2013) -
Transfection of the mutant MYH9 cDNA reproduces the most typical cellular phenotype of MYH9-related disease in different cell lines
por: Panza, Emanuele, et al.
Publicado: (2008) -
Eltrombopag for the treatment of inherited thrombocytopenias: a phase II clinical trial
por: Zaninetti, Carlo, et al.
Publicado: (2020) -
MYH9-related disease: Five novel mutations expanding the spectrum of causative mutations and confirming genotype/phenotype correlations
por: De Rocco, Daniela, et al.
Publicado: (2013) -
Images from the Haematologica Atlas of Hematologic Cytology: MYH9-related disease
por: Balduini, Carlo L., et al.
Publicado: (2021)