Associated Papers
In-depth investigations of adolescents and adults with holoprosencephaly identify unique characteristics.
Weiss K et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals.
Solomon BD et al.
Journal of Medical Genetics, 2010
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism.
Roessler E et al.
Human Mutation, 2009
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