Atypical Clinical Presentations of TAZ Mutations: An Underdiagnosed Cause of Growth Retardation?

Barth syndrome is known as a highly recognizable X-linked disorder typically presenting with the three hallmarks: (left ventricular non-compaction) cardiomyopathy, neutropenia, and 3-methylglutaconic aciduria. Furthermore, growth retardation, mild skeletal myopathy, and specific facial features as w...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Thiels, Charlotte, Fleger, Martin, Huemer, Martina, Rodenburg, Richard J., Vaz, Frederic M., Houtkooper, Riekelt H., Haack, Tobias B., Prokisch, Holger, Feichtinger, René G., Lücke, Thomas, Mayr, Johannes A., Wortmann, Saskia B.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5059176/
https://ncbi.nlm.nih.gov/pubmed/26724946
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_525
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