Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
Joint Authors
Sanjeev, Rama Krishna
Kapoor, Seema
Goyal, Manisha
Kapur, Rajiv
Gleeson, Joseph Gerard
Source
Issue
Vol. 2015, Issue 2015 (31 Dec. 2015), pp.1-3, 3 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2015-05-17
Country of Publication
Egypt
No. of Pages
3
Main Subjects
Abstract EN
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).
American Psychological Association (APA)
Sanjeev, Rama Krishna& Kapoor, Seema& Goyal, Manisha& Kapur, Rajiv& Gleeson, Joseph Gerard. 2015. Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. Case Reports in Pediatrics،Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059767
Modern Language Association (MLA)
Sanjeev, Rama Krishna…[et al.]. Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. Case Reports in Pediatrics No. 2015 (2015), pp.1-3.
https://search.emarefa.net/detail/BIM-1059767
American Medical Association (AMA)
Sanjeev, Rama Krishna& Kapoor, Seema& Goyal, Manisha& Kapur, Rajiv& Gleeson, Joseph Gerard. Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome. Case Reports in Pediatrics. 2015. Vol. 2015, no. 2015, pp.1-3.
https://search.emarefa.net/detail/BIM-1059767
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1059767
