Functional study of novel PAX9 variants: The paired domain and non‐syndromic oligodontia

Objectives To investigate pathogenic variants of the paired box 9 (PAX9) gene in patients with non‐syndromic oligodontia, and the functional impact of these variants. Subjects and Methods Whole exome sequencing and Sanger sequencing were utilized to detect gene variants in a cohort of 80 patients di...

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Veröffentlicht in:	Oral diseases 2021-09, Vol.27 (6), p.1468-1477
Hauptverfasser:	Sun, Kai, Yu, Miao, Yeh, Iting, Zhang, Liutao, Liu, Haochen, Cai, Tao, Feng, Hailan, Liu, Yang, Han, Dong
Format:	Artikel
Sprache:	eng
Schlagworte:	Anodontia - genetics Autosomal dominant inheritance Bone morphogenetic protein 4 Fluorescence microscopy functional analysis Genetic screening Heredity Humans Microscopy Mutation Mutation, Missense non‐syndromic oligodontia Pax9 protein PAX9 Transcription Factor - genetics PAX9 variants Pedigree tooth agenesis Whole Exome Sequencing
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