Associated Papers
Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly.
Bruel AL et al.
Clinical Genetics, 2018
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Solomon BD et al.
Journal of Medical Genetics, 2012
Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies.
Bakrania P et al.
American Journal of Medical Genetics. Part A, 2010
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
Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.
Odent S et al.
Human Molecular Genetics, 1999
Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.
Roessler E et al.
Nature Genetics, 1996
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