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A. van Hoof

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Open access Aug 2026

Biallelic protein truncating EXOSC6 variants cause a neurodevelopmental disorder with cerebellar atrophy, ataxia, and global developmental delay

A patient with cerebellar atrophy, ataxia, and global developmental delay is described, and trio exome sequencing identified compound heterozygous variants in the final subunit EXOSC6.

Khondakar Sayef Ahammed, Renzo Guerrini, Milo B. Fasken et al. · 0 citations