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Article

Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Nature genetics - 1 Nov 1996

Roessler E, Belloni E, Gaudenz K, Jay P, Berta P, Scherer S W, Tsui L C, Muenke M

Abstract excerpt

Holoprosencephaly (HPE) is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic and environmental causes. HPE has a prevalence of 1:250 during embryogenesis and 1:16,000 newborn infants, and involves incomplete development and septation of midline...

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Identifiers

PMID: 8896572
DOI: 10.1038/ng1196-357

Genes

SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-8896572-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

Related research

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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.PMID 8896572Read ↗

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

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

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

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

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

Wide phenotypic variability in families with holoprosencephaly and a sonic hedgehog mutation.Semantic proximity Read ↗

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

SONIC HEDGEHOG mutations causing human holoprosencephaly impair neural patterning activity.Semantic proximity Read ↗

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

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.Semantic proximity Read ↗

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

Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.Semantic proximity Read ↗

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