title: Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome.
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).
authors.affiliation: Department of Pediatrics, ACMS, India.
authors.forename: Rama Krishna
authors.initials: RK
authors.lastname: Sanjeev
authors.affiliation: Division of Genetics, Lok Nayak & Maulana Azad Medical College, New Delhi, India.
authors.forename: Seema
authors.initials: S
authors.lastname: Kapoor
authors.affiliation: Department of Paediatrics, Maulana Azad Medical College, New Delhi, India.
authors.forename: Manisha
authors.initials: M
authors.lastname: Goyal
authors.affiliation: Department of Radiology, ACMS, New Delhi, India.
authors.forename: Rajiv
authors.initials: R
authors.lastname: Kapur
authors.affiliation: Neurogenetics Laboratory, Department of Neurosciences and Paediatrics, USA ; Rady Children's Hospital, USA ; Howard Hughes Medical Institute, CA, USA.
authors.forename: Joseph Gerard
authors.initials: JG
authors.lastname: Gleeson