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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

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

Sanjeev Rama Krishna RK Kapoor Seema S Goyal Manisha M Kapur Rajiv R Gleeson Joseph Gerard JG

Case reports in pediatrics 20150517

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). ...[more]

PMID: 26075130

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