Publication: Mortality in Joubert syndrome
Mortality in Joubert syndrome
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Dempsey, J. C., Phelps, I. G., Bachmann-Gagescu, R., Glass, I. A., Tully, H. M., & Doherty, D. (2017). Mortality in Joubert syndrome. American Journal of Medical Genetics. Part A, 173, 1237–1242. https://doi.org/10.1002/ajmg.a.38158
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Joubert syndrome (JS) is a rare, recessively inherited neurodevelopmental disorder characterized by a distinctive mid-hindbrain malformation. Little is known about mortality in affected individuals. Identifying the timing and causes of death will allow for development of healthcare guidelines for families and providers and, thus, help to prolong and improve the lives of patients with JS. We evaluated information on 40 deceased individuals with JS to characterize age and cause of death. We compared this population with 525 living indiv
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- Dempsey, Jennifer C
- Phelps, Ian G
- Glass, Ian A
- Tully, Hannah M
- Doherty, Dan
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Dempsey, J. C., Phelps, I. G., Bachmann-Gagescu, R., Glass, I. A., Tully, H. M., & Doherty, D. (2017). Mortality in Joubert syndrome. American Journal of Medical Genetics. Part A, 173, 1237–1242. https://doi.org/10.1002/ajmg.a.38158
