Associated Papers
In vitro and molecular modeling analysis of two mutant desert hedgehog proteins associated with 46,XY gonadal dysgenesis.
Castro JJ et al.
Dna and Cell Biology, 2013
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
Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.
Hehr U et al.
European Journal of Pediatrics, 2004
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