Joubert syndrome is a rare genetic condition that causes underdevelopment in a part of the brain called the cerebellar vermis and malformation of the brainstem. The cerebellar vermis coordinates ...

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. This ...

Physicians may be a step closer to pre-natal diagnosis of a rare genetic disorder called Joubert syndrome. This condition, present before birth, affects an area of the brain controlling balance and ...

The syndrome, first diagnosed in 1969, is caused by an auto recessive gene shared by both parents who then pass it on to a child. There have been roughly 200 documented cases of Joubert syndrome in ...

Here we identify Bsnd (alias Barttin) as a genetic modifier of cystic kidney disease in Joubert syndrome, using a Cep290-deficient mouse model to recapitulate the phenotypic variability observed in ...

New research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, Joubert syndrome and other ciliopathies is cut in half to perform two ...

New research by Sumeda Nandadasa, PhD, reveals how a key protein associated with Meckel-Gruber syndrome, nephronophthisis, Joubert syndrome and other ciliopathies is cut in half to perform two ...

LEXINGTON, Ky. (LEX 18) — At 10 years old, Harper Borders has dealt with Joubert Syndrome her whole life, leading to developmental delays, mobility issues, and blindness. Harper goes to Marshall ...

The bedside care provider may be the first to suspect that an infant has a syndrome. In addition to a sensitive and careful history and physical examination, systematic documentation of physical ...