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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Detalles Bibliográficos
Autores principales: Sanjeev, Rama Krishna, Kapoor, Seema, Goyal, Manisha, Kapur, Rajiv, Gleeson, Joseph Gerard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2015
Materias:
Case Report
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
Descripción
Sumario: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).

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