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  5. Joubert syndrome 1

Joubert syndrome 1

December 31, 2014

Latest Research

  • <em>RPI-1</em> (human <em>DCDC2</em>) displays functional redundancy with Nephronophthisis 4 in regulating cilia biogenesis in <em>C. elegans</em>
  • A Case of INPP5E-Related Joubert Syndrome: Connecting Evolving Phenotype With Novel Genotype
  • A case of Joubert syndrome caused by novel compound heterozygous variants in the <em>TMEM67</em> gene
  • A case with Joubert syndrome diagnosed at an advanced age
  • A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome
More Research

Related Network

  • Joubert Syndrome Foundation and Related Cerebellar Disorders
  • Genetic Alliance
More Network
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