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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...

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Detalles Bibliográficos
Autores principales: Uberos, J., Moreno, L., Muñoz-Hoyos, A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Libertas Academica 2012
Materias:
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

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