Case report: A severe clinical phenotype of pontocerebellar hypoplasia type 7 with compound heterozygous variants of TOE1

Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Pontocerebellar hypoplasia type 7 with multiple congenital anomalies and progressive neurological course: a case report2026
2. 2Biochemical characterizations of Pontocerebellar Hypoplasia linked mutations of Target of Egr1 (TOE1) reveal impacts on thermal stability, ribonuclease activity, and oligomerization2025
3. 3Pontocerebellar Hypoplasia linked mutations of the deadenylase Target of EGR1 (TOE1) impair thermal stability, ribonuclease activity, and oligomerization2026
4. 4Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort2026
5. 5Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review2024 · 6 citations