Long-Surviving Adult Siblings With Joubert Syndrome Harboring a Novel Compound Heterozygous CPLANE1 Variant.

Kento MatobaNorio ChiharaWataru SatakeHideki TokuokaYoshihisa OtsukaTakehiro UedaKenji SekiguchiMasayuki ItohRiki Matsumoto

Published in: Neurology. Genetics (2022)

in patients, confirming the role of this gene in JBTS, thus providing an opportunity for neurologists to recognize JBTS as a differential diagnosis for chronic progressive ataxia in an aging society.

Keyphrases

end stage renal disease
early onset
ejection fraction
newly diagnosed
multiple sclerosis
peritoneal dialysis
prognostic factors
intellectual disability
autism spectrum disorder
copy number
case report
dna methylation
patient reported outcomes
drug induced