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Article

PHF21A Related Disorder: Description of a New Case.

International journal of molecular sciences - 17 Dec 2022

Butera Ambra, Nicotera Antonio Gennaro, Di Rosa Gabriella, Musumeci Sebastiano Antonino, Vitello Girolamo Aurelio, Musumeci Antonino, Vinci Mirella, Gloria Angelo, Federico Concetta, Saccone Salvatore, Calì Francesco

Abstract excerpt

PHF21A (PHD finger protein 21A) gene, located in the short arm of chromosome 11, encodes for BHC80, a component of the Lysine Specific Demethylase 1, Corepressor of REST (LSD1-CoREST) complex. BHC80 is mainly expressed in the human fetal brain and skeletal muscle and acts as a modulator of several neuronal genes during embryogenesis. Data from literature relates PHF21A variants with Potocki-Shaffer Syndrome...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 36555772
DOI: 10.3390/ijms232416130
PMCID: PMC9783151

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PHF21A Related Disorder: Description of a New Case.PMID 36555772Read ↗

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