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Title

Natural history of Barth syndrome: a national cohort study of 22 patients

Authors
Rigaud, Charlotte
Lebre, Anne-Sophie
Touraine, Renaud
Beaupain, Blandine
Ottolenghi, Chris
Chabli, Allel
Ansquer, Helene
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Published in Orphanet Journal of Rare Diseases. 2013, vol. 8, p. 70
Abstract This study describes the natural history of Barth syndrome (BTHS).
Keywords AdolescentBarth Syndrome/complications/genetics/mortality/physiopathologyCardiomyopathies/complicationsChildChild, PreschoolCohort StudiesFemaleFranceHumansMaleMutationNeutropenia/complicationsPedigreeSurvival RateTranscription Factors/genetics
Identifiers
PMID: 23656970
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Article (Published version) (376 Kb) - public document Free access
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Research group Plateforme d'oncologie et d'hématologie pédiatrique (907)
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(ISO format)
RIGAUD, Charlotte et al. Natural history of Barth syndrome: a national cohort study of 22 patients. In: Orphanet Journal of Rare Diseases, 2013, vol. 8, p. 70. https://archive-ouverte.unige.ch/unige:35211

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Deposited on : 2014-04-01

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