The original case of Joubert syndrome was followed for 30 years. At 30 years of age, this man had severe dysarthria, but the hyperpnea and apnea had diminished. His abnormal eye movements were ...

They include Joubert syndrome, Bardet-Biedl syndrome and Tay-Sachs disease. Until now, overall quantification of these ...

In the past year alone, next-gen sequencers powered major strides in the 1000 Genomes Project and the Human Microbiome Project; identified the genes underlying Mendelian disorders like Joubert ...

Joubert Syndrome is a rare, autosomal recessive disorder that affects the cerebellum and brain stem. It presents with a distinct respiratory pattern and profound tachypnea in the newborn period.