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Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review

Abstract Background Neonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal thrombocytopenia is complex. Inherited thrombocytopenia is rare and usually results from genetic mutations. Case presentation Here we report a...

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Principais autores: Xin Li, Ying Li, Min Lei, Jing Tian, Zuocheng Yang, Shoujin Kuang, Yanjuan Tan, Tao Bo
פורמט: Artigo
שפה:Inglês
יצא לאור: BMC 2020-11-01
סדרה:BMC Medical Genetics
נושאים:
Congenital thrombocytopenia
UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase (GNE)
Sialic acid
Neonates
Twins
גישה מקוונת:http://link.springer.com/article/10.1186/s12881-020-01163-2
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