Joubert syndrome.
Material: 1-2 ml of blood EDTA or 1-2 µg of genomic DNA
€1,400.00
Joubert syndrome is a rare inherited autosomal recessive, clinically and genetically heterogeneous disorder. The cardinal features of the syndrome are brain malformation involving the posterior cranial fossa, facial dysmorphism and the presence in the clinical picture of diffuse muscular hypotonia and ataxia, as well as symptoms of brain stem damage in the form of respiratory disorders and oculomotor apraxia.
