https://www.selleckchem.com/ph....armacological_epigen
Only one patient exhibited central hypomyelination. The POLR3A mutations present in this cohort were the c.1909 + 22G A splice site variant found in compound heterozygosity with six additional variants (three missense, two nonsense, one splice) and, in one patient, with a novel large deletion involving exons 14-18. Interestingly, this patient had the most "complex" presentation among those observed in our cohort; it included some neurological and non-neurological features, such as seizures, neurosensory deafness, and lip
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