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Article

Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes.

The Journal of clinical investigation - 1 Aug 2004

Cordero Dwight, Marcucio Ralph, Hu Diane, Gaffield William, Tapadia Minal, Helms Jill A

Abstract excerpt

One of the most perplexing questions in clinical genetics is why patients with identical gene mutations oftentimes exhibit radically different clinical features. This inconsistency between genotype and phenotype is illustrated in the malformation spectrum of holoprosencephaly (HPE). Family member...

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Identifiers

PMID: 15314685
DOI: 10.1172/JCI19596
PMCID: PMC506789

Genes

SHH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-15314685-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Temporal perturbations in sonic hedgehog signaling elicit the spectrum of holoprosencephaly phenotypes.PMID 15314685Read ↗

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