학술논문
Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.
Document Type
Case Study
Source
Subject
*DENTAL pathology
*LIVER function tests
*JOUBERT syndrome
*HETEROZYGOSITY
*GENETIC mutation
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Language
ISSN
2090-6803
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). [ABSTRACT FROM AUTHOR]