PubMed ID | Description |
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15338008 | 2004 study of 7 individuals with Dandy-Walker malformation (DWM) and heterozygous 3q2 deletions defined a critical DWM region encompassing ZIC1 and ZIC4 and demonstrated a similar phenotype in double heterozygous knockout mice. |
21204220 | 2011 report of a patient with DWM and heterozygous ZIC1 and ZIC4 deletion. Deletion was found by chromosome analysis extended 14 Mb and involved many other genes. |
As all reported deletions involving ZIC1 include its closely linked homolog ZIC4, the clinical consequence of haploinsufficiency for ZIC1 alone is not known.