Associated Papers
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup.
Marconi C et al.
Haematologica, 2023
36519321 (PubMed )
Supplement: 2022_280993_MARCONI_TABS6_SUPPL.xlsx › Foglio1
"CHildren with Inherited Platelet disorders Surveillance" (CHIPS) retrospective and prospective observational cohort study by Italian Association of Pediatric Hematology and Oncology (AIEOP).
Lassandro G et al.
Frontiers in Pediatrics, 2022
Differential intolerance to loss of function and missense mutations in genes that encode human matricellular proteins.
Kaur S et al.
Journal of Cell Communication and Signaling, 2021
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia.
Marconi C et al.
Blood, 2019
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