Splitting p63.
review · Level V
Where this comes from
- Record sourced from PubMed, PMID 12037717.
- Also identified by PMC identifier 384966.
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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.
Medical subject headings
- Mutation
- Phosphoproteins
- Trans-Activators
- Tumor Suppressor Protein p53