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Article

A TP63 mutation identified in a Han Chinese family with ectodermal dysplasia.

Archives of oral biology - 1 Aug 2023

Zhou Xi, Zhang Chengcheng, Fan Liwen, Wu Shanshan, Yao Siyue, Wang Lin, Zhong Weijie, Ma Lan, Pan Yongchu

Abstract excerpt

OBJECTIVE: The purpose of this study was to identify a pathogenic mutation located in TP63 in a nuclear Han Chinese family. DESIGN: Whole-exome sequencing and Sanger sequencing were performed to identify candidate variants. The AlphaFold and PyMOL predicted the three-dimensional structure of the protein. Single-cell RNA-sequencing data and spatiotemporal transcriptomic atlas were used to generate the dissection...

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Identifiers

PMID: 37257258
DOI: 10.1016/j.archoralbio.2023.105731

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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