Associated Papers
Low-level parental mosaicism affects the recurrence risk of holoprosencephaly.
Hu P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
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: clinical, anatomic, and molecular dimensions.
Cohen MM
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Traiffort E et al.
The Journal of Biological Chemistry, 2004
Preimplantation diagnosis for sonic hedgehog mutation causing familial holoprosencephaly.
Verlinsky Y et al.
The New England Journal of Medicine, 2003
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