Associated Papers
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Solomon BD et al.
Journal of Medical Genetics, 2012
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
Select a paper to view details