Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1871-7942
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
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online resource.
- Bibliographic citation
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Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia ; volume:2 ; number:1-2 ; day:12 ; month:8 ; year:2008 ; pages:45-49 ; date:1.2008
Genomic medicine ; 2, Heft 1-2 (12.8.2008), 45-49, 1.2008
- Creator
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Lee, Ming Ta Michael
- Contributor
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Tsai, Anne Chun-Hui
Chou, Ching-Heng
Sun, Feng-Mei
Huang, Li-Chen
Yen, Pauline
Lin, Chyi-Chyang
Liu, Chih-Yang
Wu, Jer-Yuarn
Chen, Yuan-Tsong
Tsai, Fuu-Jen
SpringerLink (Online service)
- DOI
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10.1007/s11568-008-9024-y
- URN
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urn:nbn:de:1111-2016041540545
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:48 AM CEST
Data provider
This object is provided by:
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Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Lee, Ming Ta Michael
- Tsai, Anne Chun-Hui
- Chou, Ching-Heng
- Sun, Feng-Mei
- Huang, Li-Chen
- Yen, Pauline
- Lin, Chyi-Chyang
- Liu, Chih-Yang
- Wu, Jer-Yuarn
- Chen, Yuan-Tsong
- Tsai, Fuu-Jen
- SpringerLink (Online service)
Other Objects (12)
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
Identification of RUNX2 variants associated with cleidocranial dysplasia
The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review
Identification of a familial cleidocranial dysplasia with a novel RUNX2 mutation and establishment of patient-derived induced pluripotent stem cells
A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails
Chromosome 15q24 microdeletion syndrome
Die Untersuchung des Transkriptionsfaktors RUNX2, insbesondere die RUNX2-Cbfβ-Interaktion [RUNX2-Cbf-Beta-Interaktion] in der Pathogenese der cleidocranialen Dysplasie
16p11.2 microdeletion syndrome: a case report
Adult expression of a 3q13.31 microdeletion
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review
The MEF2C -Related and 5q14.3q15 Microdeletion Syndrome
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
Identification of RUNX2 variants associated with cleidocranial dysplasia
The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review
Identification of a familial cleidocranial dysplasia with a novel RUNX2 mutation and establishment of patient-derived induced pluripotent stem cells
A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails
Chromosome 15q24 microdeletion syndrome
Die Untersuchung des Transkriptionsfaktors RUNX2, insbesondere die RUNX2-Cbfβ-Interaktion [RUNX2-Cbf-Beta-Interaktion] in der Pathogenese der cleidocranialen Dysplasie
16p11.2 microdeletion syndrome: a case report
Adult expression of a 3q13.31 microdeletion
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review
The MEF2C -Related and 5q14.3q15 Microdeletion Syndrome
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
Identification of RUNX2 variants associated with cleidocranial dysplasia
The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review
Identification of a familial cleidocranial dysplasia with a novel RUNX2 mutation and establishment of patient-derived induced pluripotent stem cells
A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails
Chromosome 15q24 microdeletion syndrome
Die Untersuchung des Transkriptionsfaktors RUNX2, insbesondere die RUNX2-Cbfβ-Interaktion [RUNX2-Cbf-Beta-Interaktion] in der Pathogenese der cleidocranialen Dysplasie
16p11.2 microdeletion syndrome: a case report
Adult expression of a 3q13.31 microdeletion
A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review