#joubert syndrome
Two blue chicks
The image above shows the skeleton of a normal chick (top left) and a chicken with a severe mutation (top right).
The mutation is in a gene called TALPID3 which is important for development. Chickens which have lost the function of TALPID3 have brain deformities, small lungs, liver fibrosis and extra fingers.
Scientists at the Roslin Institute have now found that humans with a rare genetic disorder that affects brain development, called Joubert syndrome, also have mutations in TALPID3.
By investigating the impact of the gene at the cellular level in chickens, the researchers have provided further insight into the specifics of Joubert syndrome in people.
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