Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic Dystrophy
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
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2046-2530
- Extent
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Online-Ressource
- Language
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Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Exome sequencing for disease gene discovery in Jeune’s Asphyxiating Thoracic Dystrophy ; volume:1 ; number:1 ; day:16 ; month:11 ; year:2012 ; pages:1 ; date:11.2012
Cilia ; 1, Heft 1 (16.11.2012), 1, 11.2012
- Creator
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Taylor, P.
- Contributor
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Wu, S.
Nelson, SF
Cohn, DH
Krakow, D.
SpringerLink (Online service)
- DOI
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10.1186/2046-2530-1-S1-P105
- URN
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urn:nbn:de:1111-2016072640681
- Rights
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Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:47 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
- Taylor, P.
- Wu, S.
- Nelson, SF
- Cohn, DH
- Krakow, D.
- SpringerLink (Online service)
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Pitfalls of whole exome-sequencing: hidden DYNC2H1 mutations in patients with Jeune asphyxiating thoracic dystrophy
TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport
Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement
Mutations in the gene encoding IFT dynein complex component WDR34 cause jeune asphyxiating thoracic dystrophy
Shwachman-Diamond syndrome: a complex case demonstrating the potential for misdiagnosis as asphyxiating thoracic dystrophy (Jeune syndrome)
Is Asphyxiating Thoracic Dystrophy (Jeune's Syndrome) Deadly and Should We Insist on Treating It? Reconstructive Surgery “On Demand”
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