Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A novel Alu-mediated microdeletion in the RUNX2 gene in a Chinese patient with cleidocranial dysplasia.

Journal of genetics - 1 Mar 2018

Qian Yunzhu, Zhang Yingying, Wei Bin, Zhang Mengshu, Yang Jianxin, Leng Cuihua, Ge Zili, Xu Xingshun, Sun Miao

Abstract excerpt

Cleidocranial dysplasia (CCD; OMIM: 119600) is a rare autosomal dominant skeletal dysplasia caused by RUNX2 gene mutations. The present study described a sporadic case with CCD. The clinical data of the proband with CCD was reported and genetic analysis was performed. The proband presented with typical CCD features including supernumerary impacted teeth, bilateral clavicle dysplasia, delayed closure of cranial...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alu Elements
Share to Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Base Pairing

Share to Cleidocranial Dysplasia

Share to Core Binding Factor Alpha 1 Subunit

Share to Family

Share to Gene Deletion

Share to Mosaicism

Source

Identifiers

PMID: 29666333

Genes

RUNX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel Alu-mediated microdeletion in the RUNX2 gene in a Chinese patient with cleidocranial dysplasia.PMID 29666333Read ↗

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

A novel small deletion mutation in RUNX2 gene in one Chinese family with cleidocranial dysplasia.Semantic proximity Read ↗

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

Identification of a Novel Mutation in the Runt-Related Transcription Factor 2 Gene in a Chinese Family With Cleidocranial Dysplasia.Semantic proximity Read ↗

RUNX2 mutations in cleidocranial dysplasiaSemantic proximity Read ↗

An Exploration of Mutagenesis in a Family with Cleidocranial Dysplasia without RUNX2 MutationSemantic proximity Read ↗

A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia.Semantic proximity Read ↗

A novel gene mutation of Runx2 in cleidocranial dysplasia.Semantic proximity Read ↗

Molecular Genetics of Cleidocranial Dysplasia.Semantic proximity Read ↗

[Two novel RUNX2 gene mutations in two Chinese families with cleidocranial dysplasia].Semantic proximity Read ↗

Role of the RUNX2 p.R225Q mutation in cleidocranial dysplasia: a rare presentation and an analysis of the RUNX2 protein structureSemantic proximity Read ↗

RUNX2 mutations in Chinese patients with cleidocranial dysplasia.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.