Splitting p63

AUTOR(ES)

van Bokhoven, Hans

FONTE

The American Society of Human Genetics

RESUMO

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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