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Article

Fishing the molecular bases of Treacher Collins syndrome.

PloS one - 1 Jan 2012

Weiner Andrea M J, Scampoli Nadia L, Calcaterra Nora B

Abstract excerpt

Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development, and mutations in the TCOF1 gene are responsible for over 90% of TCS cases. The knowledge about the molecular mechanisms responsible for this syndrome is relatively scant, probably due to the difficulty of reproducing the pathology in experimental animals. Zebrafish is an emerging model for human disease studies, and we...

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Source

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Identifiers

PMID: 22295061
DOI: 10.1371/journal.pone.0029574
PMCID: PMC3266255

Genes

TCOF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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