Article

Identification and Functional Characterization of a Novel De Novo RUNX2 Frameshift Mutation Associated With Cleidocranial Dysplasia

2021-02-24

Abstract excerpt

<h4>Background: </h4> Cleidocranial dysplasia (CCD) is a rare genetic disorder affecting bone and cartilage development. Clinical features of CCD comprise short stature, delayed ossification of craniofacial structures with numerous Wormian bones, underdeveloped or aplastic clavicles and multiple dental anomalies. Several studies have revealed that CCD development is strongly linked with different mutations in Runt...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 436ec7e3-d9bd-52d4-96ee-2c0e9b31eae9
DOI: 10.21203/rs.3.rs-230026/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Identification and Functional Characterization of a Novel De Novo RUNX2 Frameshift Mutation Associated With Cleidocranial DysplasiaDOI 10.21203/rs.3.rs-230026/v1Read

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.Semantic proximity Read

Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case.Semantic proximity Read

A novel single-base deletion of the RUNX Family Transcription Factor 2 gene associated 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

Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.Semantic proximity Read

New Genetic Variants of RUNX2 in Mexican Families Causes Cleidocranial DysplasiaSemantic proximity Read

Classical cleidocranial dysplasia in an adult, due to a novel frameshift pathogenic variant in RUNX2.Semantic proximity Read

RUNX2 mutations in cleidocranial dysplasiaSemantic proximity Read

The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.Semantic proximity Read

Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasiaSemantic proximity Read

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.Semantic proximity Read

A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia.Semantic proximity Read