GenomicsThe American Journal of Human GeneticsPeer-reviewed
Heterozygous variants in the mechanosensitive ion channel TMEM63A result in transient hypomyelination during infancy
Huifang Yan, Guy Helman, Swetha E. Murthy…·Nicole I. Wolf
This study identifies heterozygous TMEM63A variants causing transient hypomyelination in infancy, with clinical improvement over time.
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