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Article

Congenital amegakaryocytic thrombocytopenia with multiple physical anomalies in a female neonate.

Journal of the College of Physicians and Surgeons--Pakistan : JCPSP - 1 Nov 2014

Saqlain Nazish, Ahmed Nisar, Qamar Unaiza

Abstract excerpt

Congenital Amegakaryocytic Thrombocytopenia (CAMT) is a rare disorder of infancy characterized by isolated thrombocytopenia along with hypoplasia or aplasia of megakaryocytes in the bone marrow. It is caused by c-mpl mutation which disrupts the function of thrombopoietin (TPO) receptor. CAMT in association with physical anomalies is a rare entity with only limited data from single case reports being available....

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Share to Abnormalities, Multiple
Share to Congenital Bone Marrow Failure Syndromes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Echocardiography

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Share to Receptors, Thrombopoietin

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Source

Identifiers

PMID: 25518793
DOI: 11.2014/JCPSP.S253S255

Genes

TPO

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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