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
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
Mouden C et al.
Clinical Genetics, 2016
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
Missense substitutions in the GAS1 protein present in holoprosencephaly patients reduce the affinity for its ligand, SHH.
Pineda-Alvarez DE et al.
Human Genetics, 2012
Holoprosencephaly and holoprosencephaly-like phenotype and GAS1 DNA sequence changes: Report of four Brazilian patients.
Ribeiro LA 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
Holoprosencephaly-like phenotype: clinical and genetic perspectives.
Richieri-Costa A et al.
American Journal of Medical Genetics. Part A, 2006
Language skills and neuropsychological performance in patients with SHH mutations and a holoprosencephaly-like phenotype.
Santiago G et al.
American Journal of Medical Genetics. Part A, 2006
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