What's in a face?
- PMID: 8563748
- DOI: 10.1038/ng0296-124
What's in a face?
Abstract
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.
Comment in
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Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. The Treacher Collins Syndrome Collaborative Group.Nat Genet. 1996 Feb;12(2):130-6. doi: 10.1038/ng0296-130. Nat Genet. 1996. PMID: 8563749
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