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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).

Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome