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Article

Loss of Tgif function causes holoprosencephaly by disrupting the SHH signaling pathway.

PLoS genetics - 1 Jan 2012

Taniguchi Kenichiro, Anderson Anoush E, Sutherland Ann E, Wotton David

Abstract excerpt

Holoprosencephaly (HPE) is a severe human genetic disease affecting craniofacial development, with an incidence of up to 1/250 human conceptions and 1.3 per 10,000 live births. Mutations in the Sonic Hedgehog (SHH) gene result in HPE in humans and mice, and the Shh pathway is targeted by other mutations that cause HPE. However, at least 12 loci are associated with HPE in humans, suggesting that defects in other...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22383895
DOI: 10.1371/journal.pgen.1002524
PMCID: PMC3285584

Genes

SHH
TGIF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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