Genotypes and phenotypes of Joubert syndrome and related disorders.

  title={Genotypes and phenotypes of Joubert syndrome and related disorders.},
  author={Enza Maria Valente and Francesco Brancati and Bruno Dallapiccola},
  journal={European journal of medical genetics},
  volume={51 1},
Joubert syndrome is an autosomal recessive condition characterized by hypotonia, ataxia, psychomotor delay and variable occurrence of oculomotor apraxia and neonatal breathing abnormalities. The neuroradiological hallmark of JS is a complex midbrain-hindbrain malformation known as the "molar tooth sign" (MTS), originating from the association of cerebellar vermis hypo-/aplasia, horizontally-oriented and thickened superior cerebellar peduncles and a deepened interpeduncular fossa. A group of… CONTINUE READING


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