TP63 mutation mapping information in TP63 mutation-associated syndromes

• Main Authors: Yosuke Harazono (Author), Kei-ichi Morita (Author), Erina Tonouchi (Author), Eri Anzai (Author), Namiaki Takahara (Author), Tomohiro Kohmoto (Author), Issei Imoto (Author), Tetsuya Yoda (Author)
• Format: Book
• Published: Elsevier, 2022-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

The transcription factor tumour protein 63, encoded by the TP63 gene, is a regulator of epidermal development. Heterozygous mutations in TP63 cause a variety of human ectodermal dysplasia disorders, including ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, ectrodactyly, ectodermal dysp...