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Article

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

BMC medical genomics - 13 Feb 2024

Ghasemi Mohammad-Reza, Tehrani Fateh Sahand, Moeinafshar Aysan, Sadeghi Hossein, Karimzadeh Parvaneh, Mirfakhraie Reza, Rezaei Mitra, Hashemi-Gorji Farzad, Rezvani Kashani Morteza, Fazeli Bavandpour Fatemehsadat, Bagheri Saman, Moghimi Parinaz, Rostami Masoumeh, Madannejad Rasoul, Roudgari Hassan, Miryounesi Mohammad

Abstract excerpt

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 importance of investigating and introducing more cases to further elucidate the clinical, radiological, and biochemical...

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Identifiers

PMID: 38347586
DOI: 10.1186/s12920-024-01810-0
PMCID: PMC10863249

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