Microcephaly with polymicrogyria and corpus callosum agenesis
OMIM:Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities
Mutations
Gene Symbol | EOMES |
---|---|
DNA Change | balanced translocation between 3p and 10q![]() |
A.A. Change | |
Exon/Intron | |
Mutation Type | deletion |
Reference | Baala L, Briault S, Etchevers HC, Laumonnier F, Natiq A, Amiel J, Boddaert N, Picard C, Sbiti A, Asermouh A, Atti?-Bitach T, Encha-Razavi F, Munnich A, Sefiani A, Lyonnet S.Homozygous silencing of T-box transcription factor EOMES leads to microcephaly with polymicrogyria and corpus callosum agenesis. Nat Genet. 2007 Apr;39(4):454-6. |
 
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