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References from Generation of a human induced pluripotent stem cell line, PKUHSCi001-A, from a patient with infantile epileptic spasms syndrome carrying a de novo PHF21A variant. Local targets link to admitted publications; unresolved targets remain external evidence.
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
10.1016/j.seizure.2023.08.009 · 2023 · External reference
Molecular consequences of a missense PHF21A variant, c.1285G > A, associated with syndromic neurodevelopmental disorder
10.1007/s10571-025-01584-8 · 2025 · External reference
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
10.1186/s13229-019-0286-0 · 2019 · External reference
Recognition of unmethylated histone H3 lysine 4 links BHC80 to LSD1-mediated gene repression
10.1038/nature06034 · 2007 · External reference
The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients
10.1097/mcd.0000000000000455 · 2023 · External reference
