A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications

A Rare Case of Neonatal Cholestasis Linked to FOCAD Gene Variants: Exploring the Variable Phenotypic Presentation and Its Implications

Neonatal liver disease is a broad entity. When it presents in conjunction with other abnormalities, it raises the question of a potential underlying genetic cause. Etiologies that were once difficult to diagnose are becoming more readily identifiable with the arrival of next-generation sequencing. W...

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Main Authors: Ariel Tarrell, Jessika Weber, Reem Shawar, Luca Brunelli, Susan Morelli, Pinar Bayrak-Toydemir, Elizabeth Doughty, Gulsen Akay, Lorenzo D. Botto, Emily Flemming, N. Scott Reading, Catalina Jaramillo
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:Case Reports in Genetics
Online Access:http://dx.doi.org/10.1155/crig/9569160
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http://dx.doi.org/10.1155/crig/9569160

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