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  5. Joubert syndrome 6

Joubert syndrome 6

December 31, 2014

Latest Research

  • 12q21 deletion syndrome: Narrowing the critical region down to 1.6 Mb including SYT1 and PPP1R12A
  • A Homozygous Synonymous Variant Likely Cause of Severe Ciliopathy Phenotype
  • A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy
  • A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia
  • A novel PDE6D mutation in a patient with Joubert syndrome type 22 (JBTS22)
More Research
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