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Progressive familial intrahepatic cholestasis type 4 in an Indian child: presentation, initial course and novel compound heterozygous mutation
A 15-year-old boy who had a history of on and off pruritus and jaundice since many years found to have a novel mutation in TJP2 gene. On examination, he had clubbing, splenomegaly, grade 3 oesophageal varices and short stature. Investigation revealed direct hyperbirubinemia with elevated liver enzym...
Enregistré dans:
| Publié dans: | BMJ Case Rep |
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| Auteurs principaux: | , , , |
| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
BMJ Publishing Group
2020
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7342223/ https://ncbi.nlm.nih.gov/pubmed/32636225 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2019-234193 |
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