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