|
rdf:type |
|
|
lifeskim:mentions |
umls-concept:C0010090,
umls-concept:C0013384,
umls-concept:C0023008,
umls-concept:C0031437,
umls-concept:C0036857,
umls-concept:C0039082,
umls-concept:C0332197,
umls-concept:C0444669,
umls-concept:C0812297,
umls-concept:C1850352,
umls-concept:C1862922,
umls-concept:C1970780
|
|
pubmed:issue |
6
|
|
pubmed:dateCreated |
2011-5-26
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|
pubmed:abstractText |
Submicroscopic deletions in 14q12 spanning FOXG1 or intragenic mutations have been reported in patients with a developmental disorder described as a congenital variant of Rett syndrome. This study aimed to further characterise and delineate the phenotype of FOXG1 mutation positive patients.
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pubmed:grant |
|
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pubmed:language |
eng
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|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:month |
Jun
|
|
pubmed:issn |
1468-6244
|
|
pubmed:author |
pubmed-author:DasSomaS,
pubmed-author:DobynsWilliam BWB,
pubmed-author:FlindtMaxM,
pubmed-author:GoldsteinAmyA,
pubmed-author:HornDeniseD,
pubmed-author:KlopockiEvaE,
pubmed-author:KlugerGerhardG,
pubmed-author:KortümFannyF,
pubmed-author:KutscheKerstinK,
pubmed-author:MartinPeterP,
pubmed-author:Morris-RosendahlDeborah JDJ,
pubmed-author:RauchAnitaA,
pubmed-author:RoumerAgatheA,
pubmed-author:SaittaSulagnaS,
pubmed-author:StefanovaIrinaI,
pubmed-author:UyanikGökhanG,
pubmed-author:WalshLaurence ELE,
pubmed-author:WieczorekDagmarD
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|
pubmed:issnType |
Electronic
|
|
pubmed:volume |
48
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
396-406
|
|
pubmed:dateRevised |
2011-11-17
|
|
pubmed:meshHeading |
pubmed-meshheading:21441262-Base Sequence,
pubmed-meshheading:21441262-Child,
pubmed-meshheading:21441262-Child, Preschool,
pubmed-meshheading:21441262-Chromosomes, Human, Pair 14,
pubmed-meshheading:21441262-Comparative Genomic Hybridization,
pubmed-meshheading:21441262-Corpus Callosum,
pubmed-meshheading:21441262-Dyskinesias,
pubmed-meshheading:21441262-Female,
pubmed-meshheading:21441262-Forkhead Transcription Factors,
pubmed-meshheading:21441262-Genetic Association Studies,
pubmed-meshheading:21441262-Genotype,
pubmed-meshheading:21441262-Humans,
pubmed-meshheading:21441262-Intellectual Disability,
pubmed-meshheading:21441262-Male,
pubmed-meshheading:21441262-Methyl-CpG-Binding Protein 2,
pubmed-meshheading:21441262-Microcephaly,
pubmed-meshheading:21441262-Molecular Sequence Data,
pubmed-meshheading:21441262-Molecular Typing,
pubmed-meshheading:21441262-Mutation,
pubmed-meshheading:21441262-Nerve Tissue Proteins,
pubmed-meshheading:21441262-Phenotype,
pubmed-meshheading:21441262-Rett Syndrome,
pubmed-meshheading:21441262-Sequence Deletion
|
|
pubmed:year |
2011
|
|
pubmed:articleTitle |
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis.
|
|
pubmed:affiliation |
Institut für Humangenetik, Universitätsklinikum Hamburg-Eppendorf, Campus Forschung, Martinistraße 52, 20246 Hamburg, Germany.
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|
pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't,
Research Support, N.I.H., Extramural
|
