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

• Main Authors: Rama Krishna Sanjeev (Author), Seema Kapoor (Author), Manisha Goyal (Author), Rajiv Kapur (Author), Joseph Gerard Gleeson (Author)
• Format: Book
• Published: Hindawi Limited, 2015-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

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...