Genetic and clinical insights into pontocerebellar hypoplasia: Identification of novel variants in an Iranian cohort

Also Consider

Synapse has enriched 4 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review2024 · 16 citations
2. 2Novel Mutations in TSEN54 in Pontocerebellar Hypoplasia Type 22013 · 19 citations
3. 3Bi‐allelic missense variant, p. <scp>Ser35Leu</scp> in <scp> <i>EXOSC1</i> </scp> is associated with pontocerebellar hypoplasia2021 · 34 citations
4. 4A <i>SEPSECS</i> mutation in a 23‐year‐old woman with microcephaly and progressive cerebellar ataxia2018 · 21 citations