Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians.

doi:10.1097/MPH.0000000000000904

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Article

Congenital Amegakaryocytic Thrombocytopenia: A Case Series Indicating 2 Founder Variants in the Mississippi Band of Choctaw Indians.

Journal of pediatric hematology/oncology - 1 Oct 2017

Newman Laura A, Luter Meghan A, Davis Dereck B, Abdul-Rahman Omar A, Johnson Juantina M, Megason Gail C

Abstract excerpt

Congenital amegakaryocytic thrombocytopenia is a rare disorder causing thrombocytopenia that progresses to pancytopenia and bone marrow failure if untreated. It is caused by variants in the MPL gene which encodes the thrombopoeitin receptor. In this report, we review 5 cases of congenital amegakaryocytic thrombocytopenia, all of whom belong to the Mississippi Band of Choctaw Indians. There are 2 common variants...

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PMID: 28697167
DOI: 10.1097/MPH.0000000000000904

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.