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Hypertension and Biliary Ductopenia in a Patient with Duplication of Exon 6 of the JAG1 Gene
We describe a neonatal patient with biliary ductopenia featuring duplication of exon 6 of the JAG1 gene. Facial alterations were observed, consisting of a prominent forehead, sunken eyes, upward slanting palpebral fissures, hypertelorism, flat nasal root and prominent chin. From birth, these were ac...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Libertas Academica
2012
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3620816/ https://www.ncbi.nlm.nih.gov/pubmed/23641167 http://dx.doi.org/10.4137/CMPed.S9621 |