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...

Descripción completa

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
_version_ 1782373931363074048
author Sanjeev, Rama Krishna
Kapoor, Seema
Goyal, Manisha
Kapur, Rajiv
Gleeson, Joseph Gerard
author_facet Sanjeev, Rama Krishna
Kapoor, Seema
Goyal, Manisha
Kapur, Rajiv
Gleeson, Joseph Gerard
author_sort Sanjeev, Rama Krishna
collection PubMed
description 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).
format Online
Article
Text
id pubmed-4449927
institution National Center for Biotechnology Information
language English
publishDate 2015
publisher Hindawi Publishing Corporation
record_format MEDLINE/PubMed
spelling pubmed-44499272015-06-14 Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome Sanjeev, Rama Krishna Kapoor, Seema Goyal, Manisha Kapur, Rajiv Gleeson, Joseph Gerard Case Rep Pediatr Case Report 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). Hindawi Publishing Corporation 2015 2015-05-17 /pmc/articles/PMC4449927/ /pubmed/26075130 http://dx.doi.org/10.1155/2015/385910 Text en Copyright © 2015 Rama Krishna Sanjeev et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
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
title Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
title_full Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
title_fullStr Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
title_full_unstemmed Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
title_short Molar Tooth Sign with Deranged Liver Function Tests: An Indian Case with COACH Syndrome
title_sort molar tooth sign with deranged liver function tests: an indian case with coach syndrome
topic Case Report
url 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
work_keys_str_mv AT sanjeevramakrishna molartoothsignwithderangedliverfunctiontestsanindiancasewithcoachsyndrome
AT kapoorseema molartoothsignwithderangedliverfunctiontestsanindiancasewithcoachsyndrome
AT goyalmanisha molartoothsignwithderangedliverfunctiontestsanindiancasewithcoachsyndrome
AT kapurrajiv molartoothsignwithderangedliverfunctiontestsanindiancasewithcoachsyndrome
AT gleesonjosephgerard molartoothsignwithderangedliverfunctiontestsanindiancasewithcoachsyndrome

Ejemplares similares