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

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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Bibliographic Details
Main Authors: Xin Li, Ying Li, Min Lei, Jing Tian, Zuocheng Yang, Shoujin Kuang, Yanjuan Tan, Tao Bo
Format: Article
Language:English
Published: BMC 2020-11-01
Series:BMC Medical Genetics
Subjects:
Congenital thrombocytopenia
UDP-N-acetyl-glucosamine 2-epimerase/N-acetylmannosamine kinase (GNE)
Sialic acid
Neonates
Twins
Online Access:http://link.springer.com/article/10.1186/s12881-020-01163-2

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http://link.springer.com/article/10.1186/s12881-020-01163-2

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