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The Genetics of Inherited Cholestatic Disorders in Neonates and Infants: Evolving Challenges

Many inherited conditions cause cholestasis in the neonate or infant. Next-generation sequencing methods can facilitate a prompt diagnosis in some of these cases; application of these methods in patients with liver diseases of unknown cause has also uncovered novel gene-disease associations and impr...

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Detalles Bibliográficos
Autores principales: Jeyaraj, Rebecca, Bounford, Kirsten McKay, Ruth, Nicola, Lloyd, Carla, MacDonald, Fiona, Hendriksz, Christian J., Baumann, Ulrich, Gissen, Paul, Kelly, Deirdre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8621872/
https://www.ncbi.nlm.nih.gov/pubmed/34828443
http://dx.doi.org/10.3390/genes12111837