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Isoform-Specific Roles of Mutant p63 in Human Diseases

31 Jan 2021

Abstract excerpt

The p63 gene encodes a master regulator of epidermal commitment, development, and differentiation. Heterozygous mutations in the DNA binding domain cause Ectrodactyly, Ectodermal Dysplasia, characterized by limb deformation, cleft lip/palate, and ectodermal dysplasia while mutations in in the C-terminal domain of the α-isoform cause Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) syndrome, a...

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PMID: 33572532
DOI: 10.3390/cancers13030536

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