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
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Kim A et al.
Brain : a Journal of Neurology, 2019
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases.
Mercier S et al.
Journal of Medical Genetics, 2011
Genetic counseling and "molecular" prenatal diagnosis of holoprosencephaly (HPE).
Mercier S et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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
Array-CGH analysis indicates a high prevalence of genomic rearrangements in holoprosencephaly: an updated map of candidate loci.
Bendavid C et al.
Human Mutation, 2009
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