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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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449927 | PMC |
| http://dx.doi.org/10.1155/2015/385910 | DOI Listing |
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