Associated Papers
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Spectrum of neuro-genetic disorders in the United Arab Emirates national population.
Saleh S et al.
Clinical Genetics, 2021
Cleidocranial Dysplasia Causing Respiratory Distress in Neonates: A Case Report and Literature Review.
Xue R et al.
Frontiers in Genetics, 2021
Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.
Hordyjewska-Kowalczyk E et al.
Clinical Genetics, 2019
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
[Mutation analysis of the RUNX2 gene in a family with cleidocranial dysplasia].
Jiang T et al.
Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi Kouqiang Yixue Zazhi = West China Journal of Stomatology, 2013
RUNX2 mutations in Taiwanese patients with cleidocranial dysplasia.
Lin WD et al.
Genetics and Molecular Biology, 2011
RUNX2 analysis of Danish cleidocranial dysplasia families.
Hansen L et al.
Clinical Genetics, 2011
Perspectives on RUNX genes: an update.
Cohen MM
American Journal of Medical Genetics. Part A, 2009
Clarification of data reported in "cleidocranial dysplasia: molecular genetic analysis and phenotypic-based description of a Middle European patient group" (AJMG 139A:78-85).
Baumert U et al.
American Journal of Medical Genetics. Part A, 2006
Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.
Cunningham ML et al.
Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006
[A Chinese girl with cleidocranial dysplasia (CCD) caused by the recurrent R190W mutation in RUNX 2].
Qiu ZQ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004
Six novel mutations of the RUNX2 gene in Italian patients with cleidocranial dysplasia.
Tessa A et al.
Human Mutation, 2003
Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.
Otto F et al.
Human Mutation, 2002
Identification of novel CBFA1/RUNX2 mutations causing cleidocranial dysplasia.
Bergwitz C et al.
Journal of Inherited Metabolic Disease, 2001
A novel CBFA1 mutation (R190W) in an Italian family with cleidocranial dysplasia.
Giannotti A et al.
Human Mutation, 2000