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Article

Abnormalities of the vitreoretinal interface caused by dysregulated Hedgehog signaling during retinal development.

Human molecular genetics - 15 Dec 2003

Black Graeme C M, Mazerolle Chantal J, Wang Yaping, Campsall Katrina D, Petrin Dino, Leonard Brian C, Damji Karim F, Evans D Gareth, McLeod David, Wallace Valerie A

Abstract excerpt

Mutations in Patched (PTCH), encoding the Hedgehog (Hh) receptor, underlie Basal Cell Naevus syndrome (BCNS) and, in addition to tumor predisposition, are associated with a wide range of 'patterning' defects. The basis for the underlying patterning problems in Hh-dependent tissues in BCNS and the...

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Identifiers

PMID: 14570707
DOI: 10.1093/hmg/ddg356

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-14570707-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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