molar tooth sign with deranged liver function tests: an indian case with coach syndrome
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ID: 190553
2015
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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).
| Reference Key |
sanjeev2015casemolar
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|---|---|
| Authors | ;Rama Krishna Sanjeev;Seema Kapoor;Manisha Goyal;Rajiv Kapur;Joseph Gerard Gleeson |
| Journal | jurnal perikanan universitas gadjah mada |
| Year | 2015 |
| DOI |
10.1155/2015/385910
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| URL | |
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