• <em>PHF21A</em> Related Disorder: Description of a New Case
• 11p Microdeletion including WT1 but not PAX6, presenting with cataract, mental retardation, genital abnormalities and seizures: a case report
• 11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies
• A 137-kb deletion within the Potocki-Shaffer syndrome interval on chromosome 11p11.2 associated with developmental delay and hypotonia
• A microdeletion encompassing PHF21A in an individual with global developmental delay and craniofacial anomalies
• Combination of WAGR and Potocki-Shaffer contiguous deletion syndromes in a patient with an 11p11.2-p14 deletion
• Congenital biparietal foramina presenting with multiple concussions
• Construction of a natural panel of 11p11.2 deletions and further delineation of the critical region involved in Potocki-Shaffer syndrome
• De novo truncating variants in PHF21A cause intellectual disability and craniofacial anomalies
• Delayed Diagnosis of Potocki-Shaffer Syndrome in a Woman with Multiple Exostoses and Mental Retardation
• Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
• Familial case of Potocki-Shaffer syndrome associated with microdeletion of EXT2 and ALX4
• Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome
• Hypertension in Potocki-Shaffer syndrome: A case report
• Identification of a 6-month-old baby with a combination of WAGR and Potocki-Shaffer contiguous deletion syndromes by SNP array testing
• Intellectual disability and craniofacial anomalies explained: one more gene associated with Potocki-Shaffer syndrome
• Interstitial deletion 11(p11.12p11.2) and analphoid marker formation results in inherited Potocki-Shaffer syndrome
• Multiple Osteochondromas Comorbid With Enlarged Parietal Foramina, Elongated Styloid Processes, and Tibiofibular Synostosis
• New information, recommendations for Potocki-Shaffer syndrome
• New Insights into Potocki-Shaffer Syndrome: Report of Two Novel Cases and Literature Review
• Novel Pathogenic Variant (c.1171A&gt;T) in <em>PHF21A</em> in a Female with Intellectual Disability and Craniofacial Anomalies
• Potocki-Shaffer deletion encompassing ALX4 in a patient with frontonasal dysplasia phenotype
• Potocki-Shaffer syndrome in a child without intellectual disability-The role of PHF21A in cognitive function
• Potocki-Shaffer syndrome revealed in a WAGR syndrome case with multiple exostoses
• Potocki-Shaffer syndrome: comprehensive clinical assessment, review of the literature, and proposals for medical management
• Potocki-Shaffer syndrome: report of one case
• Proximal chromosome 11p contiguous gene deletion syndrome phenotype: case report and review of the literature
• Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion
• The first Korean patient with Potocki-Shaffer syndrome: a rare cause of multiple exostoses
• The Largest Germline Heterozygous Deletion Encompassing Potocki-Shaffer and WAGR Syndromes Loci to Date: A Case Report
• The PHF21A neurodevelopmental disorder: an evaluation of clinical data from 13 patients
• Transcriptome Analysis Revealed Impaired cAMP Responsiveness in PHF21A-Deficient Human Cells
• Translocations disrupting PHF21A in the Potocki-Shaffer-syndrome region are associated with intellectual disability and craniofacial anomalies