Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy

Combined loss of LAP1B and LAP1C results in an early onset multisystemic nuclear envelopathy, Published online: 05 February 2019; doi:10.1038/s41467-019-08493-7

Nuclear envelopathies are a group of diseases caused by genetic mutations in essential nuclear envelope genes. Here, the authors report a nuclear envelopathy with a homozygous nonsense variant in TOR1AIP1 which leads to changes in the nuclear morphology including large nuclear-spanning channels in patients' fibroblasts.

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