Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome

Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by various degrees of abnormalities in the liver, heart, eyes, vertebrae, kidneys, face, vasculature, skeleton, and pancreas. This case report describes a newborn child exhibiting a congenital neural tube defect and peculiar cra...

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Detalles Bibliográficos
Autores principales: Micaglio, Emanuele, Andronache, Andreea Alina, Carrera, Paola, Monasky, Michelle M., Locati, Emanuela T., Pirola, Barbara, Presi, Silvia, Carminati, Mario, Ferrari, Maurizio, Giamberti, Alessandro, Pappone, Carlo
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6940840/
https://www.ncbi.nlm.nih.gov/pubmed/31835735
http://dx.doi.org/10.3390/ijms20246247

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6940840/
https://www.ncbi.nlm.nih.gov/pubmed/31835735
http://dx.doi.org/10.3390/ijms20246247

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