Article
A novel MSX1 intronic mutation associated with autosomal dominant non-syndromic oligodontia in a large Chinese family pedigree.
Clinica chimica acta; international journal of clinical chemistry - 1 Oct 2016
Xue Jinjie, Gao Qingping, Huang Yanru, Zhang Xiaoyu, Yang Pu, Cram David S, Liang Desheng, Wu Lingqian
Abstract excerpt
BACKGROUND: Tooth agenesis is a common developmental dental anomaly. The aim of the study was to identify the causal genetic mutation in a four-generation Chinese family affected with non-syndromic autosomal dominant tooth agenesis. METHODS: Genome-wide scanning was performed using the Illumina Linkage-12 array. Genotyping of short tandem repeat markers was used to finely map the causative locus. Haplotype...
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