A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report
Neonatal encephalopathy (NE) is a complex clinical condition with diverse etiologies. Hypoxic-ischemic encephalopathy (HIE) is a major contributor to NE cases. However, distinguishing NE subtypes, such as pontocerebellar hypoplasia type 1E (PCH1E), from HIE can be challenging due to overlapping clin...
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Frontiers Media S.A.,
2024-02-01T00:00:00Z.
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