Winter R M
Mothercare Unit of Clinical Genetics and Fetal Medicine, Institute of Child Health, London, UK.
Nat Genet. 1996 Feb;12(2):124-9. doi: 10.1038/ng0296-124.
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.
从临床角度对导致人类面部异常的遗传综合征进行了广泛研究。在这些综合征中，独特的面部特征常常与其他器官系统的特定缺陷相关联，而相关基因必定在正常发育过程中都发挥着重要作用。本文对已定位或分离出的导致颅面异常的基因进行了综述。
