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A novel stop codon variant affecting ΔNp63 isoforms associated with non‐syndromic limb‐mammary phenotype and uterine cervix dysplasia

The TP63 gene encodes the p63 transcription factor, a master regulator of the normal development of ectodermal derivatives and a crucial player also in limbs and oro-facial structures formation. In addition, the p63 protein appears to be necessary for the maintenance and renewal of various cells and tissues in postnatal life. The gene is transcribed in six major mRNAs, due to the use of two distinct promoters and extensive alternative splicing involving 30