| CAMT in a female with developmental delay, facial malformations and central nervous system anomalies. | |
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MedLine Citation:
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PMID: 21225925 Owner: NLM Status: In-Process |
Abstract/OtherAbstract:
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Congenital amegakaryocytic thrombocytopenia (CAMT) is a rare disorder characterized by thrombocytopenia and absence or decline in the number of megakaryocytic precursors in the bone marrow. It is caused by mutations in the thrombopoietin receptor gene, c-mpl, involved in the proliferation and differentiation of megakaryocytes and platelets. The association between CAMT and central nervous system (CNS) anomalies has been reported in the literature, albeit not very frequently. Here we present a unique case where CAMT appeared associated to cerebellum agenesis, hypoplasia of the corpus callosum and brainstem, facial malformations, and developmental delay. |
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Authors:
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Nazareth Martinón-Torres; Manuel Vázquez-Donsión; Lourdes Loidi; Jose Miguel Couselo |
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Publication Detail:
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Type: Journal Article Date: 2010-11-12 |
Journal Detail:
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Title: Pediatric blood & cancer Volume: 56 ISSN: 1545-5017 ISO Abbreviation: Pediatr Blood Cancer Publication Date: 2011 Mar |
Date Detail:
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Created Date: 2011-01-12 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101186624 Medline TA: Pediatr Blood Cancer Country: United States |
Other Details:
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Languages: eng Pagination: 452-3 Citation Subset: IM |
Copyright Information:
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Copyright © 2010 Wiley-Liss, Inc. |
Affiliation:
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Pediatric Hematology and Oncology Unit, Hospital Clínico Universitario de Santiago de Compostela, Spain. nazareth.martinon.torres@sergas.es. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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