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Article

Inhibition of neural crest migration underlies craniofacial dysmorphology and Hirschsprung's disease in Bardet-Biedl syndrome.

Proceedings of the National Academy of Sciences of the United States of America - 6 May 2008

Tobin Jonathan L, Di Franco Matt, Eichers Erica, May-Simera Helen, Garcia Monica, Yan Jiong, Quinlan Robyn, Justice Monica J, Hennekam Raoul C, Briscoe James, Tada Masazumi, Mayor Roberto, Burns Alan J, Lupski James R, Hammond Peter, Beales Philip L

Abstract excerpt

Facial recognition is central to the diagnosis of many syndromes, and craniofacial patterns may reflect common etiologies. In the pleiotropic Bardet-Biedl syndrome (BBS), a primary ciliopathy with intraflagellar transport dysfunction, patients have a characteristic facial "gestalt" that dysmorpho...

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Identifiers

PMID: 18443298
DOI: 10.1073/pnas.0707057105
PMCID: PMC2373327

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18443298-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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