What's in a face?
Genetic syndromes causing human facial abnormalities have been extensively studied from the clinical point of view. In these syndromes, distinctive facial features are frequently associated with specific defects of other organ systems, and the genes responsible must all play a significant part in normal development. In this paper genes causing craniofacial abnormalities, that have either been mapped or isolated, are reviewed.
Winter
R M
RM
Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D005145:Face / Q000002:abnormalities*; D005260:Female; D006257:Head / Q000002:abnormalities; D006801:Humans; D008297:Male; D008445:Maxillofacial Development / Q000235:genetics; D013577:Syndrome; D013580:Synostosis / Q000235:genetics