Progressive cognitive impairment and ventricular tachycardia in a boy with biallelic POLG variants and a de novo RYR2 variation.

Abstract excerpt

Routine use of next-generation sequencing has shown that most common phenotypes are genetically heterogeneous and that in many cases, mutations in the same gene may cause markedly different phenotypes. Furthermore, complex clinical presentations are often due to multiple coexisting genetic defects. Here, we describe a patient with a complex clinical phenotype: a childhood-onset neurodevelopmental disorder with...

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