GNE – related severe congenital macrothrombocytopenia: A case report and literature review

Congenital thrombocytopenia results from genetic mutations in genes implicated in megakaryocyte differentiation and/or platelet formation and clearance. We report the case of an 11-month-old girl who presented with severe macrothrombocytopenia since birth and subsequently developed an intracranial b...

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Egile Nagusiak:	Muhammad Matloob Alam, Abdulrhman Alathaibi, Muhammad Kashif, Mohammed Zakaria, Ruwayd Adel Attar, Hamdan Saeed Al-Ghamdi, Abdullah Obaid Al Harbi
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Wolters Kluwer Medknow Publications 2022-01-01
Saila:	Journal of Applied Hematology
Gaiak:	congenital gne gene mutation macro/thrombocytopenia myopathy intracranial bleeding sialic acid
Sarrera elektronikoa:	http://www.jahjournal.org/article.asp?issn=1658-5127;year=2022;volume=13;issue=4;spage=280;epage=284;aulast=Alam
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