Journal
CLINICAL GENETICS
Volume 67, Issue 4, Pages 290-296Publisher
WILEY
DOI: 10.1111/j.1399-0004.2005.00418.x
Keywords
congenital malformations; Dandy-Walker; development; heterotaxy; holoprosencephaly; neural tube defects; ZIC
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The human ZIC gene family is comprised of five members encoding zinc-finger transcription factors, which are the vertebrate homologs of the Drosophila odd-paired gene. Mutations in ZIC genes in humans have recently been implicated in a wide variety of congenital malformations, including Dandy-Walker malformation, holoprosencephaly, neural tube defects, and heterotaxy. Mutant analysis of these genes in mice has underscored the conserved developmental roles of these genes. Further, this analysis has begun to elucidate the molecular and developmental mechanisms underlying these important birth defects.
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