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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MDPI AG,
2024-11-01T00:00:00Z.
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A1234.567 |
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