A novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report
- Location
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Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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1471-2431
- 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 novel compound heterozygous mutation of the SMARCAL1 gene leading to mild Schimke immune-osseous dysplasia: a case report ; volume:17 ; number:1 ; day:28 ; month:12 ; year:2017 ; pages:1-6 ; date:12.2017
BMC pediatrics ; 17, Heft 1 (28.12.2017), 1-6, 12.2017
- Keyword
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Erbkrankheit
Erbschaden
- Creator
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Liu, Shuaimei
- Contributor
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Zhang, Mingchao
Ni, Mengxia
Zhu, Peiran
Xia, Xinyi
SpringerLink (Online service)
- DOI
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10.1186/s12887-017-0968-8
- URN
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urn:nbn:de:1111-201802223597
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
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14.08.2025, 10:56 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
- Liu, Shuaimei
- Zhang, Mingchao
- Ni, Mengxia
- Zhu, Peiran
- Xia, Xinyi
- SpringerLink (Online service)
Other Objects (12)
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Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report
A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Schimke immunoosseous dysplasia: defining skeletal features
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Schimke, Karl
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Different growth patterns in two siblings with Schimke immuno-osseous-dysplasia
Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia
Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report
A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Schimke immunoosseous dysplasia: defining skeletal features
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia
Mandibular Actinomyces osteomyelitis complicating florid cemento-osseous dysplasia: case report
Schimke, Karl
Schimke, Hubert
Schimke, Lorenz
Different growth patterns in two siblings with Schimke immuno-osseous-dysplasia
Profound T Lymphocyte and DNA Repair Defect Characterizes Schimke Immuno-Osseous Dysplasia
Podocytic infolding in Schimke immuno-osseous dysplasia with novel SMARCAL1 mutations: a case report
A novel SMARCAL1 mutation associated with a mild phenotype of Schimke immuno-osseous dysplasia (SIOD)
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia?
Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?
Schimke immunoosseous dysplasia: defining skeletal features
Compound heterozygous WNT10A missense variations exacerbated the tooth agenesis caused by hypohidrotic ectodermal dysplasia
Mandibular Actinomyces osteomyelitis complicating florid cemento-osseous dysplasia: case report
Schimke, Karl
Schimke, Hubert