molar tooth sign with deranged liver function tests: an indian case with coach syndrome
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molar tooth sign with deranged liver function tests: an indian case with coach syndrome

;Rama Krishna Sanjeev;Seema Kapoor;Manisha Goyal;Rajiv Kapur;Joseph Gerard Gleeson
jurnal perikanan universitas gadjah mada 2015 Vol. 2015 pp. -
157
sanjeev2015casemolar

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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Pediatrics

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DOI:
10.1155/2015/385910
URL:
http://dx.doi.org/10.1155/2015/385910

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ID: 190553
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