A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2.
about
Emx2 homeodomain transcription factor interacts with eukaryotic translation initiation factor 4E (eIF4E) in the axons of olfactory sensory neuronsCandidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohortHuman brain evolution: harnessing the genomics (r)evolution to link genes, cognition, and behaviorGenetics of the polymicrogyria syndromes.Heterozygous mutations in SIX3 and SHH are associated with schizencephaly and further expand the clinical spectrum of holoprosencephaly.Molecular and comparative genetics of mental retardation.Association of common genetic variants in GPCPD1 with scaling of visual cortical surface area in humans.Subset of early radial glial progenitors that contribute to the development of callosal neurons is absent from avian brain.Screening for genes that wire the cerebral cortex.Maternally inherited heterozygous sequence change in the sonic hedgehog gene in a male patient with bilateral closed-lip schizencephaly and partial absence of the corpus callosum.Malformations of cortical development and epilepsy
P2860
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P2860
A number of schizencephaly patients including 2 brothers are heterozygous for germline mutations in the homeobox gene EMX2.
description
1997 nî lūn-bûn
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1997年の論文
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1997年学术文章
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1997年学术文章
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1997年学术文章
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name
A number of schizencephaly pat ...... ons in the homeobox gene EMX2.
@en
A number of schizencephaly pat ...... ons in the homeobox gene EMX2.
@nl
type
label
A number of schizencephaly pat ...... ons in the homeobox gene EMX2.
@en
A number of schizencephaly pat ...... ons in the homeobox gene EMX2.
@nl
prefLabel
A number of schizencephaly pat ...... ons in the homeobox gene EMX2.
@en
A number of schizencephaly pat ...... ons in the homeobox gene EMX2.
@nl
P2093
P1476
A number of schizencephaly pat ...... ons in the homeobox gene EMX2.
@en
P2093
E Boncinelli
G Battaglia
L D'Incerti
S Brunelli
P304
P577
1997-07-01T00:00:00Z