Kleefstra syndrome, caused by haploinsufficiency of euchromatin histone methyltransferase
1 (EHMT1), is characterized by intellectual disability (ID), autism spectrum disorder (ASD) …

Purpose PHF21A has been associated with intellectual developmental disorder with
behavioral abnormalities and craniofacial dysmorphism with or without seizures (IDDBCS) …

Potocki-Shaffer syndrome (PSS) is a rare non-recurrent contiguous gene deletion syndrome
involving chromosome 11p11. 2. Current literature implies a minimal region with …

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 …

Background PHF21A has been associated with intellectual disability and craniofacial
anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11. 2 and its …

Potocki–Shaffer syndrome (PSS) is a contiguous gene syndrome caused by 11p11. 2
deletions. PSS is clinically characterized by intellectual disability, craniofacial anomalies …

In Potocki–Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when
deletions are at least 2.1 Mb in size at 11p11. 2. The PSS‐associated genes EXT2 and …

Potocki–Shaffer syndrome (PSS) is a rare neurodevelopmental disorder caused by
deletions involving the 11p11. 2-p12 region, encompassing the plant homeodomain finger …

Abstract Potocki-Shaffer syndrome (PSS, OMIM# 601224) is a rare contiguous gene deletion
syndrome caused by haploinsufficiency of genes located on the 11p11. 2p12. Affected …

Chromosomal aberrations affect the functionality of certain genes and/or their regulatory
elements, leading to congenital anomalies. Congenital ocular and oculofacial anomalies are …