Associated Papers
Molecular Consequences of a Missense PHF21A Variant, c.1285G > A, Associated With Syndromic Neurodevelopmental Disorder.
Gavilan CM et al.
Cellular and Molecular Neurobiology, 2025
A neuron-specific microexon ablates the novel DNA-binding function of a histone H3K4me0 reader PHF21A.
Porter RS et al.
Biorxiv : the Preprint Server for Biology, 2023
De novo variants in PHF21A cause intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures: A case report and literature review.
Chen H et al.
Seizure, 2023
PHF21A Related Disorder: Description of a New Case.
Butera A et al.
International Journal of Molecular Sciences, 2022
Novel Pathogenic Variant (c.1171A>T) in PHF21A in a Female with Intellectual Disability and Craniofacial Anomalies.
Lee C et al.
Molecular Syndromology, 2022
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism.
Kim HG et al.
Molecular Autism, 2019
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