Article
Bleeding phenotype and hemostatic evaluation by thrombin generation in children with Noonan syndrome: A prospective study.
Pediatric blood & cancer - 1 Feb 2024
Barg Assaf A, Yeshayahu Yonatan, Avishai Einat, Budnik Ivan, Cohen Omri, Brutman-Barazani Tami, Dardik Rima, Raas-Rothschild Annick, Levy-Mendelovich Sarina, Livnat Tami, Pinhas-Hamiel Orit, Kenet Gili
Abstract excerpt
BACKGROUND: This study aimed to evaluate the bleeding phenotype and to conduct a comprehensive hemostatic evaluation in individuals with Noonan syndrome (NS), a dominantly inherited disorder caused by pathogenic variants in genes associated with the Ras/MAPK signaling pathway. METHODS: Children with a genetically confirmed diagnosis of NS underwent clinical evaluation, routine laboratory tests, platelet function...
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