A TMEM63A Nonsense Heterozygous Variant Linked to Infantile Transient Hypomyelinating Leukodystrophy Type 19?
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DOI: 10.3390/genes15050525
Abstract: Infantile onset transient hypomyelination (IOTH) is a rare form of leukodystrophy that is associated with transient motor impairment and delayed central nervous system myelination. Here, we report a case of a new mutation in the… read more here.
Keywords: infantile transient; linked infantile; hypomyelinating leukodystrophy; transient hypomyelinating ... See more keywords