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A Novel TAZ Gene Mutation and Mosaicism in a Polish Family with Barth Syndrome
Barth syndrome (BTHS) is an X-linked recessive disease primarily affecting males. Clinically, the disease is characterized by hypertrophic or dilated cardiomyopathy, skeletal myopathy, chronic/cyclic neutropenia, 3-methylglutaconic aciduria, growth retardation and respiratory chain dysfunction. It i...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Blackwell Publishing Ltd
2015
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4654251/ https://www.ncbi.nlm.nih.gov/pubmed/25776009 http://dx.doi.org/10.1111/ahg.12108 |