Broadening the PHIP -Associated Neurodevelopmental Phenotype.
Background: Monoallelic damaging variants in PHIP (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 show developmental de...
| Publicado en: | Children Vol. 11; no. 11; pp. 1395 - 1404 |
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| Autores principales: | , , , , , |
| Formato: | case study pictorial tables/charts Journal Article |
| Publicado: |
MDPI
Nov2024
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| Acceso en línea: | Ver este registro en EBSCOhost |