SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

Reference

Örlén, Hanna, et al. “SPG11 Mutations Cause Kjellin Syndrome, a Hereditary Spastic Paraplegia With Thin Corpus Callosum and Central Retinal Degeneration”. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, vol. 150B, no. 7, Jan. 2009, pp. 984–992, https://doi.org/10.1002/ajmg.b.30928.

PubMed Reference Number (PMID)

19194956