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Article

Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.

Developmental cell - 1 Aug 2008

Geng Xin, Speirs Christina, Lagutin Oleg, Inbal Adi, Liu Wei, Solnica-Krezel Lilianna, Jeong Yongsu, Epstein Douglas J, Oliver Guillermo

Abstract excerpt

Holoprosencephaly (HPE), the most common forebrain malformation, is characterized by an incomplete separation of the cerebral hemispheres. Mutations in the homeobox gene SIX3 account for 1.3% of all cases of human HPE. Using zebrafish-based assays, we have now determined that HPE-associated Six3 mutant proteins function as hypomorphs. Haploinsufficiency of Six3 caused by deletion of one allele of Six3 or by...

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Identifiers

PMID: 18694563
DOI: 10.1016/j.devcel.2008.07.003
PMCID: PMC2597207

Genes

SIX3

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Haploinsufficiency of Six3 fails to activate Sonic hedgehog expression in the ventral forebrain and causes holoprosencephaly.PMID 18694563Read ↗

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