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Article

SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.

Human genetics - 1 Jul 2003

Schell-Apacik Can, Rivero Mariel, Knepper Jessica L, Roessler Erich, Muenke Maximilian, Ming Jeffrey E

Abstract excerpt

Holoprosencephaly (HPE) is a common forebrain malformation associated with mental retardation and craniofacial anomalies. Multiple lines of evidence indicate that loss of ventral neurons is associated with HPE. The condition is etiologically heterogeneous, and abnormalities in any of several genes can cause human HPE. Among these genes, mutations in SONIC HEDGEHOG ( SHH) are the most commonly identified single...

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Source

Identifiers

PMID: 12709790
DOI: 10.1007/s00439-003-0950-4

Genes

SHH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.PMID 12709790Read ↗

Expression of the Sonic hedgehog (SHH ) gene during early human development and phenotypic expression of new mutations causing holoprosencephaly.Semantic proximity Read ↗

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

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

Ectopic sonic hedgehog signaling impairs telencephalic dorsal midline development: implication for human holoprosencephaly.Semantic proximity Read ↗

Mouse models of holoprosencephaly.Semantic proximity Read ↗

Sonic hedgehog (SHH) mutation in patients within the spectrum of holoprosencephaly.Semantic proximity Read ↗

Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes.Semantic proximity Read ↗

Holoprosencephaly: a paradigm for the complex genetics of brain development.Semantic proximity Read ↗

Identification of Sonic hedgehog as a candidate gene responsible for holoprosencephaly.Semantic proximity Read ↗

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

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

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