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

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 differentiati...

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Pubblicato in:Genet Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group US 2019
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC7056642/
https://ncbi.nlm.nih.gov/pubmed/31649276
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0669-9
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