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...

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Detalles Bibliográficos
Autores principales: Zapała, Barbara, Płatek, Teresa, Wybrańska, Iwona
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2015
Materias:
Short Communications
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

Internet

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

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