Associated Papers
Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.
Kruszka P et al.
The Journal of Craniofacial Surgery, 2015
Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.
Solomon BD et al.
Journal of Medical Genetics, 2012
A broad range of ophthalmologic anomalies is part of the holoprosencephaly spectrum.
Pineda-Alvarez DE et al.
American Journal of Medical Genetics. Part A, 2011
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
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