Disease: Potocki-Shaffer syndrome
- <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>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