POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

doi:10.1038/s41436-019-0669-9

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Article

POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2020

Sanchez Elodie, Laplace-Builhé Béryl, Mau-Them Frédéric Tran, Richard Eric, Goldenberg Alice, Toler Tomi L, Guignard Thomas, Gatinois Vincent, Vincent Marie, Blanchet Catherine, Boland Anne, Bihoreau Marie Thérèse, Deleuze Jean-Francois, Olaso Robert, Nephi Walton, Lüdecke Hermann-Josef, Verheij Joke B G M, Moreau-Lenoir Florence, Denoyelle Françoise, Rivière Jean-Baptiste, Laplanche Jean-Louis, Willing Marcia, Captier Guillaume, Apparailly Florence, Wieczorek Dagmar, Collet Corinne, Djouad Farida, Geneviève David

Abstract excerpt

PURPOSE: Treacher Collins syndrome (TCS) is a rare autosomal dominant mandibulofacial dysostosis, with a prevalence of 0.2-1/10,000. Features include bilateral and symmetrical malar and mandibular hypoplasia and facial abnormalities due to abnormal neural crest cell (NCC) migration and differentiation. To date, three genes have been identified: TCOF1, POLR1C, and POLR1D. Despite a large number of patients with a...

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PMID: 31649276
DOI: 10.1038/s41436-019-0669-9
PMCID: PMC7056642

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

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