POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4-Reference-Cited by-同舟云学术

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

Published:2020-03 Issue:3 Volume:22 Page:547-556
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

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,Moreau-Lenoir Florence,Denoyelle Françoise,Rivière Jean-Baptiste,Laplanche Jean-Louis,Willing Marcia,Captier Guillaume^ORCID,Apparailly Florence,Wieczorek Dagmar,Collet Corinne,Djouad Farida,Geneviève David

Funder

French Franceschetti-Treacher Collins association Coline

Direction Générale de l’offre de Soins

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/s41436-019-0669-9.pdf

Reference28 articles.

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3. p53 inhibitor or antioxidants reduce the severity of ethmoid plate deformities in zebrafish Type 3 Treacher Collins syndrome model;International Journal of Biological Macromolecules;2024-05

4. Diamond-Blackfan anemia, the archetype of ribosomopathy: How distinct is it from the other constitutional ribosomopathies?;Blood Cells, Molecules, and Diseases;2024-05

5. Possible germline mosaicism in a pedigree with Treacher Collins syndrome: A case report and brief review;Science Progress;2024-04