Associated Papers
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.
Hong S et al.
Human Mutation, 2020
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
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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