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Article

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

European journal of medical genetics - 1 May 2026

Rezaei Zahra, Emami Farnoosh, Heidari Morteza, Mohammadi Mahmoud, Yousefian Milad, Badv Reza Shervin, Kowkabi Safoura, Mahdieh Nejat, Ashrafi Mahmoud Reza

Abstract excerpt

Pontocerebellar hypoplasia (PCH) comprises a group of rare neurodevelopmental disorders characterized by prenatal-onset cerebellar and pontine atrophy, often leading to severe motor and cognitive impairments. While advances in genetic diagnostics have improved our understanding, the full spectrum of causative mutations remains unclear, particularly in underrepresented populations. This study aims to delineate the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41825724
DOI: 10.1016/j.ejmg.2026.105074

Genes

EXOSC3
RARS2
SEPSECS
TSEN54

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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