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
Naturally occurring splice variants dissect the functional domains of BHC80 and emphasize the need for RNA analysis.
Hejla D et al.
American Journal of Medical Genetics. Part A, 2024
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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