Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup

Inherited thrombocytopenias (IT) are genetic diseases characterized by low platelet count, sometimes associated with congenital defects or a predisposition to develop additional conditions. Next-generation sequencing has substantially improved our knowledge of IT, with more than 40 genes identified...

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Detalles Bibliográficos
Autores principales: Marconi, Caterina, Pecci, Alessandro, Palombo, Flavia, Melazzini, Federica, Bottega, Roberta, Nardi, Elena, Bozzi, Valeria, Faleschini, Michela, Barozzi, Serena, Giangregorio, Tania, Magini, Pamela, Balduini, Carlo L., Savoia, Anna, Seri, Marco, Noris, Patrizia, Pippucci, Tommaso
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Fondazione Ferrata Storti 2022
Materias:
Article - Platelet Biology & its Disorders
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316235/
https://www.ncbi.nlm.nih.gov/pubmed/36519321
http://dx.doi.org/10.3324/haematol.2022.280993

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10316235/
https://www.ncbi.nlm.nih.gov/pubmed/36519321
http://dx.doi.org/10.3324/haematol.2022.280993

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