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Article

Case Report: Clinical Variation in Children With Thrombopoietin Receptor (C-MPL) Mutations: Report of 2 Cases.

Journal of pediatric hematology/oncology - 1 Jan 2018

Lo Clara, Alvarez Elysia, Ohgami Robert S, Jeng Michael

Abstract excerpt

Congenital amegakaryocytic thrombocytopenia (CAMT, MIM# 604498) is a rare congenital bone marrow failure syndrome which presents early in life with abnormal bleeding because of thrombocytopenia. Classically, megakaryocytes are decreased to absent in the bone marrow. The development of aplastic anemia early in childhood has led to the recommendation for early stem cell transplantation. Quantitative or...

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Source

Identifiers

PMID: 28859041
DOI: 10.1097/MPH.0000000000000944

Genes

MPL

Provenance

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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