Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome

• Главные авторы: Rama Krishna Sanjeev (Автор), Seema Kapoor (Автор), Manisha Goyal (Автор), Rajiv Kapur (Автор), Joseph Gerard Gleeson (Автор)
• Формат: ‌
• Опубликовано: Hindawi Limited, 2015-01-01T00:00:00Z.
• Предметы: article
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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...