Broadening the <i>PHIP</i>-Associated Neurodevelopmental Phenotype

• Main Authors: Giulia Pascolini (Author), Giovanni Luca Scaglione (Author), Balasubramanian Chandramouli (Author), Daniele Castiglia (Author), Giovanni Di Zenzo (Author), Biagio Didona (Author)
• Format: Book
• Published: MDPI AG, 2024-11-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Background: Monoallelic damaging variants in <i>PHIP</i> (MIM*612870), encoding the Pleckstrin Homology Domain Interacting Protein, have been associated with a novel neurodevelopmental disorder, also termed Chung-Jansen syndrome (CHUJANS, MIM#617991). Most of the described individuals sh...