How does sphingomyelin synthase dysfunction cause peripheral facial nerve palsy and neurological manifestations?

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Description

The abstract reports neurological symptoms including facial nerve palsy in SGMS2 patients, but provides no mechanistic explanation for how bone-expressed sphingomyelin metabolism affects peripheral nerve function. This gap is critical for understanding the full phenotypic spectrum and potential neurological complications.

Gap type: unexplained_observation Source paper: Osteoporosis and skeletal dysplasia caused by pathogenic variants in SGMS2. (2019, JCI insight, PMID:30779713)

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