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

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

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 ca...

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Bibliographic Details
Main Authors: Rama Krishna Sanjeev, Seema Kapoor, Manisha Goyal, Rajiv Kapur, Joseph Gerard Gleeson
Format: Article
Language:English
Published: Wiley 2015-01-01
Series:Case Reports in Pediatrics
Online Access:http://dx.doi.org/10.1155/2015/385910
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