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

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

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...

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Bibliographic Details
Main Authors: Giulia Pascolini, Giovanni Luca Scaglione, Balasubramanian Chandramouli, Daniele Castiglia, Giovanni Di Zenzo, Biagio Didona
Format: Article
Language:English
Published: MDPI AG 2024-11-01
Series:Children
Subjects:
<i>PHIP</i>
neurodevelopment
Chung–Jansen syndrome (CHUJANS)
Pitt–Hopkins syndrome (PTHS)-like phenotype
abnormal skin appendages
teeth anomalies
Online Access:https://www.mdpi.com/2227-9067/11/11/1395
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