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
Single median maxillary central incisor: new data and mutation review.
El-Jaick KB et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2007
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Traiffort E et al.
The Journal of Biological Chemistry, 2004
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