A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Hereditas · 2025 · PMC11776157 · PMID 39881416

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highly significantno p-value reported

The association between cytoplasmic dyneins and ciliary intraflagellar transport (IFT), an evolutionarily conserved process, is highly significant.

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