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Article

A novel single-base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia.

European journal of oral sciences - 1 Feb 2023

Pan Yuhua, Lu Wanyu, Meng Weidong, Liao Wenxiao, Hu Aiqin, Wu Buling, Xiong Fu

Abstract excerpt

Cleidocranial dysplasia (CCD) is a rare, autosomal dominant hereditary disorder characterized by skeletal malformations and dental abnormalities. The purpose of this study was to explore the functional role of a novel mutation in the pathogenesis of CCD. Genomic DNA was extracted from peripheral blood mononuclear cells collected from family members of a Chinese patient with CCD. An analysis of their RUNX Family...

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PMID: 36598486
DOI: 10.1111/eos.12910

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel single-base deletion of the RUNX Family Transcription Factor 2 gene associated with cleidocranial dysplasia.PMID 36598486Read ↗

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Whole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia.Semantic proximity Read ↗

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