Article
Holoprosencephaly due to mutations in ZIC2, a homologue of Drosophila odd-paired.
Nature genetics - 1 Oct 1998
Brown S A, Warburton D, Brown L Y, Yu C Y, Roeder E R, Stengel-Rutkowski S, Hennekam R C, Muenke M
Abstract excerpt
Holoprosencephaly (HPE) is the most common structural anomaly of the human brain and is one of the anomalies seen in patients with deletions and duplications of chromosome 13. On the basis of molecular analysis of a series of patients with hemizygous deletions of the long arm of chromosome 13, we have defined a discrete region in band 13q32 where deletion leads to major developmental anomalies (the 13q32 deletion...
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