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

ABSTRACT: 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).

SUBMITTER: Sanjeev RK 

PROVIDER: S-EPMC4449927 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature