A novel homozygous variant in SLC25A46 gene associated with pontocerebellar hypoplasia type 1E: a case report

• Asıl Yazarlar: Adrien Guillaume (Yazar), Vojtech Stejskal (Yazar), Guillaume Smits (Yazar), Dorottya Kelen (Yazar)
• Materyal Türü: Kitap
• Baskı/Yayın Bilgisi: Frontiers Media S.A., 2024-02-01T00:00:00Z.
• Konular: article
• Online Erişim: Connect to this object online.

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...