Identification of a Novel De Novo Mutation of the TAZ Gene in a Korean Patient with Barth Syndrome
Barth syndrome (BTHS) is a rare genetic disorder characterized by various types of cardiomyopathy, neutropenia, failure to thrive, skeletal myopathy, and 3-methylglutaconic aciduria. BTHS is caused by loss-of-function mutations in the tafazzin (TAZ) gene located on chromosome Xq28, leading to cardio...
| Main Authors: | , , , , , , , , |
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| Format: | Online |
| Language: | English |
| Published: |
Korean Society of Echocardiography
2016
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| Online Access: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925393/ |