Associated Papers
Holoprosencephaly in a family segregating novel variants in ZIC2 and GLI2.
Wannasilp N et al.
American Journal of Medical Genetics. Part A, 2011
TGIF Mutations in Human Holoprosencephaly: Correlation between Genotype and Phenotype.
Keaton AA et al.
Molecular Syndromology, 2010
The mutational spectrum of holoprosencephaly-associated changes within the SHH gene in humans predicts loss-of-function through either key structural alterations of the ligand or its altered synthesis.
Roessler E et al.
Human Mutation, 2009
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Traiffort E et al.
The Journal of Biological Chemistry, 2004
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