The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients.
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DOI: 10.1097/mcd.0000000000000455
Abstract: Potocki-Shaffer syndrome (PSS) is a rare neurodevelopmental disorder caused by deletions involving the 11p11.2-p12 region, encompassing the plant homeodomain finger protein 21A (PHF21A) gene. PHF21A has an important role in epigenetic regulation and PHF21A variants… read more here.
Keywords: disorder evaluation; neurodevelopmental disorder; evaluation clinical; disorder ... See more keywords