| http://purl.uniprot.org/citations/37068767 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/37068767 | http://www.w3.org/2000/01/rdf-schema#comment | "DNA Topoisomerase IIβ (TOP2B) acts on DNA topology during transcription and has a critical role in neural development. Heterozygous pathogenic changes in its encoding gene, TOP2B (MIM *126431), has been linked with three overlapping phenotypes characterized by immunodeficiency, acral and urogenital anomalies: Hoffman, BILU and Ablepharon-macrostomia-like syndrome. We herein report on a mother and two sons with distinct TOP2B-phenotype. Two males reported further delineated genital phenotype of males and all reported patients were reviewed for genotype-phenotype correlation. We believe the patients reported herein along with the previously defined 11 represent a phenotypic spectrum from mild-to-severe immunological, acral and urogenital involvement, for which we propose the acronym "TOP2B-related Immunodeficiency and Congenital Anomalies Spectrum (TICAS)"."xsd:string |
| http://purl.uniprot.org/citations/37068767 | http://purl.org/dc/terms/identifier | "doi:10.1111/cge.14341"xsd:string |
| http://purl.uniprot.org/citations/37068767 | http://purl.uniprot.org/core/author | "Kayserili H."xsd:string |
| http://purl.uniprot.org/citations/37068767 | http://purl.uniprot.org/core/author | "Eraslan S."xsd:string |
| http://purl.uniprot.org/citations/37068767 | http://purl.uniprot.org/core/author | "Avcı S."xsd:string |
| http://purl.uniprot.org/citations/37068767 | http://purl.uniprot.org/core/author | "Cepni E."xsd:string |
| http://purl.uniprot.org/citations/37068767 | http://purl.uniprot.org/core/author | "Kalaycı T."xsd:string |
| http://purl.uniprot.org/citations/37068767 | http://purl.uniprot.org/core/author | "Borklu E."xsd:string |
| http://purl.uniprot.org/citations/37068767 | http://purl.uniprot.org/core/date | "2023"xsd:gYear |
| http://purl.uniprot.org/citations/37068767 | http://purl.uniprot.org/core/name | "Clin Genet"xsd:string |
| http://purl.uniprot.org/citations/37068767 | http://purl.uniprot.org/core/pages | "251-258"xsd:string |
| http://purl.uniprot.org/citations/37068767 | http://purl.uniprot.org/core/title | "Revisiting TOP2B-related phenotypes: Three new cases and literature review."xsd:string |
| http://purl.uniprot.org/citations/37068767 | http://purl.uniprot.org/core/volume | "104"xsd:string |
| http://purl.uniprot.org/citations/37068767 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/37068767 |
| http://purl.uniprot.org/citations/37068767 | http://xmlns.com/foaf/0.1/primaryTopicOf | https://pubmed.ncbi.nlm.nih.gov/37068767 |
| http://purl.uniprot.org/uniprot/#_B4DKD0-mappedCitation-37068767 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37068767 |
| http://purl.uniprot.org/uniprot/#_B4DLV2-mappedCitation-37068767 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37068767 |
| http://purl.uniprot.org/uniprot/#_B7ZB27-mappedCitation-37068767 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37068767 |
| http://purl.uniprot.org/uniprot/#_L8E8K5-mappedCitation-37068767 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37068767 |
| http://purl.uniprot.org/uniprot/#_Q02880-mappedCitation-37068767 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37068767 |
| http://purl.uniprot.org/uniprot/#_Q59H80-mappedCitation-37068767 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37068767 |
| http://purl.uniprot.org/uniprot/#_Q71UH4-mappedCitation-37068767 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37068767 |
| http://purl.uniprot.org/uniprot/#_Q6LBI8-mappedCitation-37068767 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37068767 |
| http://purl.uniprot.org/uniprot/#_Q8WTY5-mappedCitation-37068767 | http://www.w3.org/1999/02/22-rdf-syntax-ns#object | http://purl.uniprot.org/citations/37068767 |