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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Hindawi Publishing Corporation
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4449927/ https://www.ncbi.nlm.nih.gov/pubmed/26075130 http://dx.doi.org/10.1155/2015/385910 |