Genetic & Genomic MedicinemedRxivPreprint
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature
Navin B. Ramakrishna, Yoshikazu Johmura, Nur Ain Ali…·Ahmad N. Abou Tayoun
This study identifies FBXO22 deficiency as a cause of a pleiotropic syndrome with growth restriction and neurodevelopmental delay, linked to an epigenetic signature involving histone demethylase KDM4B.
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