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Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
Rama Krishna Sanjeev1, Seema Kapoor2, Manisha Goyal3
1Department of Pediatrics, ACMS, India.
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).
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