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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Auteurs principaux: Rebecca Jeyaraj, Kirsten McKay Bounford, Nicola Ruth, Carla Lloyd, Fiona MacDonald, Christian J. Hendriksz, Ulrich Baumann, Paul Gissen, Deirdre Kelly
Format: article
Langue:EN
Publié: MDPI AG 2021
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Accès en ligne:https://doaj.org/article/19e6850e82d44dfc96f2b4081fee6317
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