Novel EXOSC9 variants cause pontocerebellar hypoplasia type 1D with spinal motor neuronopathy and cerebellar atrophy.
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DOI: 10.1038/s10038-020-00853-2
Abstract: Pontocerebellar hypoplasia (PCH) is currently classified into 13 subgroups and many gene variants associated with PCH have been identified by next generation sequencing. PCH type 1 is a rare heterogeneous neurodegenerative disorder. The clinical presentation… read more here.
Keywords: neuronopathy cerebellar; type; motor neuronopathy; exosc9 variants ... See more keywords