| Literature DB >> 12037717 |
Hans van Bokhoven1, Han G Brunner.
Abstract
Causative TP63 mutations have been identified in five distinct human developmental disorders that are characterized by various degrees of limb abnormalities, ectodermal dysplasia, and facial clefts. The distribution of mutations over the various p63 protein domains and the structural and functional implications of these mutations establish a clear genotype-phenotype correlation.Entities:
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Year: 2002 PMID: 12037717 PMCID: PMC384966 DOI: 10.1086/341450
Source DB: PubMed Journal: Am J Hum Genet ISSN: 0002-9297 Impact factor: 11.025