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Article

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

BMC medical genetics - 16 Nov 2020

Li Xin, Li Ying, Lei Min, Tian Jing, Yang Zuocheng, Kuang Shoujin, Tan Yanjuan, Bo Tao

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33198675
DOI: 10.1186/s12881-020-01163-2
PMCID: PMC7670786

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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