Rama Krishna Sanjeev

We don’t have enough information about this author to calculate their statistics. If you think this is an error let us know.
Learn More
We report the first genetically proven case of COACH syndrome from the Indian subcontinent in a 6-year-old girl who presented with typical features of Joubert syndrome along with hepatic involvement. Mutation analysis revealed compound heterozygous missense mutation in the known gene TMEM67 (also called MKS3).
  • 1