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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2010-1-12
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pubmed:abstractText |
Rett syndrome is a severe neurodevelopmental disorder representing one of the most common genetic causes of mental retardation in girls. The classic form is caused by MECP2 mutations. In two patients affected by the congenital variant of Rett we have recently identified mutations in the FOXG1 gene encoding a brain specific transcriptional repressor, essential for early development of the telencephalon.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
1468-6244
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pubmed:author |
pubmed-author:ArianiFF,
pubmed-author:ArmstrongJJ,
pubmed-author:ArtusiTT,
pubmed-author:Bahi-BuissonNN,
pubmed-author:BienvenuTT,
pubmed-author:ChabrolBB,
pubmed-author:De FilippisRR,
pubmed-author:GamGG,
pubmed-author:KruminaZZ,
pubmed-author:MencarelliM AMA,
pubmed-author:MonclaAA,
pubmed-author:NectouxJJ,
pubmed-author:PEAKH JHJ,
pubmed-author:PinedaMM,
pubmed-author:RenieriAA,
pubmed-author:RocheAA,
pubmed-author:RondinellaDD,
pubmed-author:RubinsztajnRR,
pubmed-author:Spanhol-RossetoAA,
pubmed-author:VillardLL
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pubmed:issnType |
Electronic
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pubmed:volume |
47
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
49-53
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pubmed:meshHeading |
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pubmed:year |
2010
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pubmed:articleTitle |
Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.
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pubmed:affiliation |
Medical Genetics, Molecular Biology Department, University of Siena, 53100 Siena, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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