Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review

Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and cerebellum, with 17 types associated with 25 genes. However...

Source: BMC Medical Genomics - February 13, 2024 Category: Genetics & Stem Cells Authors: Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Aysan Moeinafshar, Hossein Sadeghi, Parvaneh Karimzadeh, Reza Mirfakhraie, Mitra Rezaei, Farzad Hashemi-Gorji, Morteza Rezvani Kashani, Fatemehsadat Fazeli Bavandpour, Saman Bagheri, Parinaz Moghimi, Masoumeh R Tags: Research Source Type: research