Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
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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 geneTMEM67(also called MKS3).
2021 ◽
Vol 14
(1)
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pp. 21
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2018 ◽
Vol 4
(4)
◽
pp. 501
Keyword(s):
2018 ◽
Vol 5
(1)
◽
pp. 47
Keyword(s):
2020 ◽
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