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

• Main Authors: Mohammad-Reza Ghasemi (Author), Sahand Tehrani Fateh (Author), Aysan Moeinafshar (Author), Hossein Sadeghi (Author), Parvaneh Karimzadeh (Author), Reza Mirfakhraie (Author), Mitra Rezaei (Author), Farzad Hashemi-Gorji (Author), Morteza Rezvani Kashani (Author), Fatemehsadat Fazeli Bavandpour (Author), Saman Bagheri (Author), Parinaz Moghimi (Author), Masoumeh Rostami (Author), Rasoul Madannejad (Author), Hassan Roudgari (Author), Mohammad Miryounesi (Author)
• Format: Book
• Published: BMC, 2024-02-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background 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, some types of PCH lack sufficient information, which highlights the i...