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Article

Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.

The Journal of craniofacial surgery - 1 Jan 2015

Kruszka Paul, Hart Rachel A, Hadley Donald W, Muenke Maximilian, Habal Mutaz B

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PMID: 25569381
DOI: 10.1097/SCS.0000000000001377

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Related research

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Expanding the phenotypic expression of Sonic Hedgehog mutations beyond holoprosencephaly.PMID 25569381Read ↗

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Genotypic and phenotypic analysis of 396 individuals with mutations in Sonic Hedgehog.Semantic proximity Read ↗

Functional analysis of Sonic Hedgehog variants associated with holoprosencephaly in humans using a CRISPR/Cas9 zebrafish model.Semantic proximity Read ↗

Cdo Functions at Multiple Points in the Sonic Hedgehog Pathway, and Cdo-Deficient Mice Accurately Model Human HoloprosencephalySemantic proximity Read ↗

Genetic approaches to understanding brain development: Holoprosencephaly as a modelSemantic proximity Read ↗

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.Semantic proximity Read ↗

Human developmental disorders and the Sonic hedgehog pathwaySemantic proximity Read ↗

Functional characterization of sonic hedgehog mutations associated with holoprosencephaly.Semantic proximity Read ↗

Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans.Semantic proximity Read ↗

The Sonic Hedgehog–Patched–Gli Pathway in Human Development and DiseaseSemantic proximity Read ↗

The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.Semantic proximity Read ↗

Gas1 is a modifier for holoprosencephaly and genetically interacts with sonic hedgehog.Semantic proximity Read ↗

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