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
Solitary Median Maxillary Central Incisor Syndrome: An Exploration of the Pathogenic Mechanism.
Li J et al.
Frontiers in Genetics, 2022
Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.
Hong S et al.
Human Mutation, 2020
Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions.
Roessler E et al.
Molecular Genetics and Metabolism, 2012
Endocrine and anatomical findings in a case of Solitary Median Maxillary Central Incisor Syndrome.
Szakszon K et al.
European Journal of Medical Genetics, 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
Solitary median maxillary central incisor (SMMCI) syndrome.
Hall RK
Orphanet Journal of Rare Diseases, 2006
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.
Traiffort E et al.
The Journal of Biological Chemistry, 2004
Solitary median maxillary central incisor syndrome: clinical case with a novel mutation of sonic hedgehog.
Garavelli L et al.
American Journal of Medical Genetics. Part A, 2004
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