title: Novel craniofacial and extracraniofacial findings in a case of Treacher Collins syndrome with a pathogenic mutation and a missense variant in the TCOF1 gene.
authors.affiliation: Clinical Genetics Program Departments of Radiology Pathology and Molecular Medicine, McMaster University Medical Centre and McMaster University, Hamilton, Ontario, Canada.
authors.forename: Chumei
authors.initials: C
authors.lastname: Li
authors.forename: John
authors.initials: J
authors.lastname: Mernagh
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Bourgeois
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics / Q000473:pathology*; D020125:Mutation, Missense; D013577:Syndrome