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

BMC Med Genet. 2020 Nov 16;21(1):224
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摘要

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 case of twins with severe inherited thrombocytopenia presented in the neonatal period who were shown to be compound heterozygotes for 2 UDP-N-acetylglucosamine 2-epimerase (GNE) gene mutations, c.1351C > T and c.1330G > T, of which c.1330G > T is a novel mutation. CONCLUSION:These two GNE mutations may help in the diagnosis and management of thrombocytopenia diagnosed in neonates.

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