@article{37cf71f0fbb741c68fe1c849019b5b38,
title = "Two extraordinarily severe cases of Treacher Collins syndrome",
keywords = "Apoptosis, Deletion, Exon 16A, Exon 6A, Insertion, Neural crest, Nucleolar phosphoprotein, POLR1C, POLR1D, Point mutation, Polymorphism, RNA polymerase I, RNA polymerase III, TCOF1, Treacle",
author = "Mislen Bauer and Wilmar Saldarriaga and Wolfe, {S. Anthony} and Beckwith, {J. Bruce} and Frias, {Jaime L.} and Cohen, {M. Michael}",
year = "2013",
month = mar,
doi = "10.1002/ajmg.a.35397",
language = "English",
volume = "161",
pages = "445--452",
journal = "American Journal of Medical Genetics, Part A",
issn = "1552-4825",
number = "3",
}