The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- Extent
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1 Online-Ressource.
- Language
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Englisch
- Bibliographic citation
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The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review ; volume:22 ; number:1 ; day:3 ; month:12 ; year:2024 ; pages:1-16 ; date:12.2024
Journal of translational medicine ; 22, Heft 1 (3.12.2024), 1-16, 12.2024
- Creator
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Thaweesapphithak, Sermporn
Termteerapornpimol, Kittipat
Wongsirisuwan, Siriwong
Chantarangsu, Soranun
Porntaveetus, Thantrira
- Contributor
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SpringerLink (Online service)
- DOI
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10.1186/s12967-024-05904-2
- URN
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urn:nbn:de:101:1-2502172117582.674624412248
- Rights
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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15.08.2025, 7:24 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Thaweesapphithak, Sermporn
- Termteerapornpimol, Kittipat
- Wongsirisuwan, Siriwong
- Chantarangsu, Soranun
- Porntaveetus, Thantrira
- SpringerLink (Online service)
Other Objects (12)
Identification of RUNX2 variants associated with cleidocranial dysplasia
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia
Phenotype from SAMD9 Mutation at 7p21.1 Appears Attenuated by Novel Compound Heterozygous Variants at RUNX2 and SALL1
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review
Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain
Die Untersuchung des Transkriptionsfaktors RUNX2, insbesondere die RUNX2-Cbfβ-Interaktion [RUNX2-Cbf-Beta-Interaktion] in der Pathogenese der cleidocranialen Dysplasie
Genotype–phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4 WHIM variants
Genotype–phenotype correlation in two Polish neonates with alveolar capillary dysplasia
Phenotype wide association study links bronchopulmonary dysplasia with eosinophilia in children
Identification of a familial cleidocranial dysplasia with a novel RUNX2 mutation and establishment of patient-derived induced pluripotent stem cells
Identification of RUNX2 variants associated with cleidocranial dysplasia
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia
Phenotype from SAMD9 Mutation at 7p21.1 Appears Attenuated by Novel Compound Heterozygous Variants at RUNX2 and SALL1
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review
Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain
Die Untersuchung des Transkriptionsfaktors RUNX2, insbesondere die RUNX2-Cbfβ-Interaktion [RUNX2-Cbf-Beta-Interaktion] in der Pathogenese der cleidocranialen Dysplasie
Genotype–phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4 WHIM variants
Genotype–phenotype correlation in two Polish neonates with alveolar capillary dysplasia
Phenotype wide association study links bronchopulmonary dysplasia with eosinophilia in children
Identification of a familial cleidocranial dysplasia with a novel RUNX2 mutation and establishment of patient-derived induced pluripotent stem cells
Identification of RUNX2 variants associated with cleidocranial dysplasia
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia
Phenotype from SAMD9 Mutation at 7p21.1 Appears Attenuated by Novel Compound Heterozygous Variants at RUNX2 and SALL1
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review
Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
The Bone Dysplasia Ontology: integrating genotype and phenotype information in the skeletal dysplasia domain
Die Untersuchung des Transkriptionsfaktors RUNX2, insbesondere die RUNX2-Cbfβ-Interaktion [RUNX2-Cbf-Beta-Interaktion] in der Pathogenese der cleidocranialen Dysplasie
Genotype–phenotype correlations in WHIM syndrome: a systematic characterization of CXCR4 WHIM variants
Genotype–phenotype correlation in two Polish neonates with alveolar capillary dysplasia
Phenotype wide association study links bronchopulmonary dysplasia with eosinophilia in children