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A Novel c.91dupG JAG1 Gene Mutation Is Associated with Early Onset and Severe Alagille Syndrome
Alagille syndrome (MIM 118450) is an autosomal dominant disorder characterized by paucity of intrahepatic bile ducts, chronic cholestasis, pulmonary stenosis, butterfly-like vertebrae, posterior embryotoxon, and dysmorphic facial features. Most cases are caused by JAG1 gene mutations. We report the...
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| Published in: | Case Rep Genet |
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| Main Authors: | , , , , , , |
| Format: | Artigo |
| Language: | Inglês |
| Published: |
Hindawi
2018
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| Subjects: | |
| Online Access: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6036836/ https://ncbi.nlm.nih.gov/pubmed/30046498 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/1369413 |
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