Associated Papers
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
Holoprosencephaly-like phenotype: clinical and genetic perspectives.
Richieri-Costa A et al.
American Journal of Medical Genetics. Part A, 2006
Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype.
Santiago G et al.
American Journal of Medical Genetics. Part A, 2006
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