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
Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene.
Savastano CP et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2014
Unique alterations of an ultraconserved non-coding element in the 3'UTR of ZIC2 in holoprosencephaly.
Roessler E et al.
Plos One, 2012
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
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