It’s well known that FXN repeat expansions cause Friedreich’s ataxia, but in certain cases, the affected individual is compound heterozygous for an expansion plus another pathogenic variant.
Today we’re taking a look at some important epilepsy-related genes for which testing can be particularly tricky due to their propensity for deletion and/or duplication variants and tandem repeat expansions …
This year we’re taking a survey of recent literature that’s influencing the way clinicians may approach genetic testing and treatment decisions for patients presenting with symptoms of kidney disorders now and in the future. Read on to learn with us …
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