Associated Papers
Further evidence for complex inheritance of holoprosencephaly: Lessons learned from pre- and postnatal diagnostic testing in Germany.
Hinreiner S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
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
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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