[PDF][PDF] Splitting p63

H van Bokhoven, HG Brunner - The American Journal of Human Genetics, 2002 - cell.com
H van Bokhoven, HG Brunner
The American Journal of Human Genetics, 2002cell.com
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.
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.
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