Associated Papers
Impact of Sonic Hedgehog-dependent sphenoid bone defect on craniofacial growth.
Guyodo H et al.
Clinical and Experimental Dental Research, 2024
38558491 (PubMed )
Supplement: CRE2-10-e861-s001.pdf
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
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
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Traiffort E et al.
The Journal of Biological Chemistry, 2004
Phenotypic and molecular variability of the holoprosencephalic spectrum.
Lazaro L et al.
American Journal of Medical Genetics. Part A, 2004
Select a paper to view details