Wird geladen...

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...

Ausführliche Beschreibung

Gespeichert in:
Bibliographische Detailangaben
Hauptverfasser: Uberos, J., Moreno, L., Muñoz-Hoyos, A.
Format: Artigo
Sprache:Inglês
Veröffentlicht: Libertas Academica 2012
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3620816/
https://ncbi.nlm.nih.gov/pubmed/23641167
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4137/CMPed.S9621
Tags: Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!