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Article

A homozygous variant in ARHGAP39 is associated with lethal cerebellar vermis hypoplasia in a consanguineous Saudi family.

Scientific reports - 25 Oct 2024

Alayoubi Abdulfatah M, Alfadhli Fatima, Mehnaz, Albalawi Alia M, Ramzan Khushnooda, Jelani Musharraf, Basit Sulman

Abstract excerpt

Cerebellar vermis hypoplasia refers to a varying degree of incomplete development of the cerebellum and vermis. A Saudi family with four affected individuals with cerebellar vermis hypoplasia, facial dysmorphology, visual impairment, skeletal, and cardiac abnormalities was ascertained in this study. Three out of four patients could not survive longer and had died in early infancy. Genetic analysis of the youngest...

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Identifiers

PMID: 39455833
DOI: 10.1038/s41598-024-77541-0
PMCID: PMC11511811

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