Linked Life Data

19775298

Source:http://linkedlifedata.com/resource/pubmed/id/19775298

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2009-11-17
pubmed:abstractText
We report the case of a child with clinical and haematological features indicative of juvenile myelomonocytic leukaemia (JMML). The patient showed dysmorphic features: high forehead, bilateral epicanthal folds, long eyebrows, low nasal bridge and slightly low-set ears. A 38G>A (G13D) mutation in exon 1 of the NRAS gene was first demonstrated on peripheral blood cells, and then confirmed on granulocyte-macrophage colony-forming units. The same mutation was also found in buccal swab, hair bulbs, endothelial cells, skin fibroblasts. This case suggests for the first time that constitutional mutations of NRAS may be responsible for development of a myeloproliferative/myelodysplastic disorder in children.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
1365-2141
pubmed:author
pubmed:issnType
Electronic
pubmed:volume
147
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
706-9
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
Germ-line mutation of the NRAS gene may be responsible for the development of juvenile myelomonocytic leukaemia.
pubmed:affiliation
Medical Genetics, Department of Human and Hereditary Pathology, University of Pavia, Pavia, Italy.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't