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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| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2015-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2015/385910 |
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| _version_ | 1832554812954116096 |
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| author | Rama Krishna Sanjeev Seema Kapoor Manisha Goyal Rajiv Kapur Joseph Gerard Gleeson |
| author_facet | Rama Krishna Sanjeev Seema Kapoor Manisha Goyal Rajiv Kapur Joseph Gerard Gleeson |
| author_sort | Rama Krishna Sanjeev |
| collection | DOAJ |
| description | 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). |
| format | Article |
| id | doaj-art-c88ebc107d0540dca6e6712d0c112715 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2015-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-c88ebc107d0540dca6e6712d0c1127152025-02-03T05:50:29ZengWileyCase Reports in Pediatrics2090-68032090-68112015-01-01201510.1155/2015/385910385910Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH SyndromeRama Krishna Sanjeev0Seema Kapoor1Manisha Goyal2Rajiv Kapur3Joseph Gerard Gleeson4Department of Pediatrics, ACMS, IndiaDivision of Genetics, Lok Nayak & Maulana Azad Medical College, New Delhi, IndiaDepartment of Paediatrics, Maulana Azad Medical College, New Delhi, IndiaDepartment of Radiology, ACMS, New Delhi, IndiaNeurogenetics Laboratory, Department of Neurosciences and Paediatrics, USAWe 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).http://dx.doi.org/10.1155/2015/385910 |
| spellingShingle | Rama Krishna Sanjeev Seema Kapoor Manisha Goyal Rajiv Kapur Joseph Gerard Gleeson Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome Case Reports in Pediatrics |
| title | Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome |
| title_full | Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome |
| title_fullStr | Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome |
| title_full_unstemmed | Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome |
| title_short | Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome |
| title_sort | molar tooth sign with deranged liver function tests an indian case with coach syndrome |
| url | http://dx.doi.org/10.1155/2015/385910 |
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