Linked Life Data

21225925

Source:http://linkedlifedata.com/resource/pubmed/id/21225925

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
2011-1-12
pubmed:abstractText
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.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Mar
pubmed:issn
1545-5017
pubmed:author
pubmed:copyrightInfo
Copyright © 2010 Wiley-Liss, Inc.
pubmed:issnType
Electronic
pubmed:volume
56
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
452-3
pubmed:meshHeading
pubmed:year
2011
pubmed:articleTitle
CAMT in a female with developmental delay, facial malformations and central nervous system anomalies.
pubmed:affiliation
Pediatric Hematology and Oncology Unit, Hospital Clínico Universitario de Santiago de Compostela, Spain. nazareth.martinon.torres@sergas.es.
pubmed:publicationType
Journal Article, Case Reports