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Article

Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations.

Journal of pediatric hematology/oncology - 1 Dec 2007

Steinberg Orna, Gilad Gil, Dgany Orly, Krasnov Tatyana, Zoldan Meira, Laor Ruth, Kapelushnik Joseph, Gabriel Herzel, Churi Chaim, Stein Jerry, Yaniv Isaac, Tamary Hannah

Abstract excerpt

Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare bone marrow failure syndrome associated with thrombocytopenia and a tendency to progress to aplastic anemia. Mutations in the c-MPL gene encoding for thrombopoietin receptor have been identified in the majority of the patients. Previous...

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Source

Identifiers

PMID: 18090929
DOI: 10.1097/MPH.0b013e318158152e

Genes

MPL

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18090929-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Congenital amegakaryocytic thrombocytopenia-3 novel c-MPL mutations and their phenotypic correlations.PMID 18090929Read ↗

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