A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2377
- 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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A limb-girdle myopathy phenotype of RUNX2 mutation in a patient with cleidocranial dysplasia: a case study and literature review ; volume:17 ; number:1 ; day:6 ; month:1 ; year:2017 ; pages:1-6 ; date:12.2017
BMC neurology ; 17, Heft 1 (6.1.2017), 1-6, 12.2017
- Keyword
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Orthopädie
- Creator
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Hsueh, Sung-Ju
- Contributor
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Lee, Ni-Chung
Yang, Shu-hua
Lin, Han-I
Lin, Chin-Hsien
SpringerLink (Online service)
- DOI
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10.1186/s12883-016-0781-2
- URN
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urn:nbn:de:1111-201702021058
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:51 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
- Hsueh, Sung-Ju
- Lee, Ni-Chung
- Yang, Shu-hua
- Lin, Han-I
- Lin, Chin-Hsien
- SpringerLink (Online service)
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A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
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Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
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Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report
Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy
Identification of RUNX2 variants associated with cleidocranial dysplasia
Neues Erklärvideo zur Limb Girdle Muscular Dystrophy
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
Cardioembolic stroke related to limb-girdle muscular dystrophy 1B
Characterization of the sarcolemma in limb-girdle muscular dystrophy
Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy
Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy
Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report
Development of differential diagnostic models for distinguishing between limb-girdle muscular dystrophy and idiopathic inflammatory myopathy
Identification of RUNX2 variants associated with cleidocranial dysplasia
Neues Erklärvideo zur Limb Girdle Muscular Dystrophy
A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia
Cardioembolic stroke related to limb-girdle muscular dystrophy 1B
Characterization of the sarcolemma in limb-girdle muscular dystrophy
Intragenic microdeletion of RUNX2 is a novel mechanism for cleidocranial dysplasia
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic
Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia
A novel COL6A2 mutation causing late-onset limb-girdle muscular dystrophy