Associated Papers
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Solomon BD et al.
Journal of Medical Genetics, 2012
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
Pineda-Alvarez DE et al.
American Journal of Medical Genetics. Part A, 2011
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
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