Treacher Collins syndrome: from linkage to prenatal testing.
Dixon
M J
MJ
School of Biological Sciences, University of Manchester, U.K.
D002874:Chromosome Mapping; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D007231:Infant, Newborn; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length; D011247:Pregnancy; D011296:Prenatal Diagnosis
D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human