Associated Papers
Functional consequences of C-terminal mutations in RUNX2.
Thaweesapphithak S et al.
Scientific Reports, 2023
37500953 (PubMed )
Supplement: 41598_2023_39293_MOESM1_ESM.pdf
Marie-Sainton syndrome (cleidocranial dysplasia): early diagnosis is the key.
Koduru Laxmi S et al.
Bmj Case Reports, 2022
[The Pierre Marie-Sainton syndrome or cleidocranial dysplasia].
Lerusse J et al.
Revue Medicale De Liege, 2020
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
Hordyjewska-Kowalczyk E et al.
Clinical Genetics, 2019
Main genetic entities associated with supernumerary teeth.
Cammarata-Scalisi F et al.
Archivos Argentinos De Pediatria, 2018
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.
Ma D et al.
Medicine, 2018
30095610 (PubMed )
Supplement: medi-97-e11328-s001.doc
[Clinical and molecular study in a family with cleidocranial dysplasia].
Callea M et al.
Archivos Argentinos De Pediatria, 2017
A case of cleidocranial dysplasia with peculiar dental features: pathogenetic role of the RUNX2 mutation and long term follow-up.
Callea M et al.
Oral Health and Dental Management, 2014
A new phenotypic variant in cleidocranial dysplasia (CCD) associated with mutation c.391C>T of the RUNX2 gene.
Callea M et al.
Bmj Case Reports, 2012
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott CE et al.
Human Mutation, 2010
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