| http://purl.uniprot.org/citations/32201334 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32201334 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/32201334 | http://www.w3.org/2000/01/rdf-schema#comment | "Auriculocondylar syndrome (ARCND, MIM #614669, #602483, and #615706); also known as ''question-mark ear syndrome'' or ''dysgnathia complex'', is a rare craniofacial malformation of first and second branchial arches with a prevalence of <1/1,000,000. It is characterized by a distinctive auricular malformation (question mark ear (QME)) and highly variable mandibular anomalies. Variants found in PLCB4, GNAI3, and in EDN1 genes are responsible for >90% of tested ARCND patients. Whole exome sequencing in a multigenerational Egyptian kindred with high intrafamilial variability revealed a known heterozygous missense variant in PLCB4 (NM_000933.3:c.1862G>A:p.(Arg621His)). This report increases the number of molecularly characterized ARCND patients to 29 and emphasizes the highly variable clinical presentation within families."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ejmg.2020.103917"xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ejmg.2020.103917"xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "Alkuraya F.S."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "Alkuraya F.S."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "Maddirevula S."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "Maddirevula S."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "Morsy H."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "Morsy H."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "Nabil A."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "Nabil A."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "El Shafei S."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "El Shafei S."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "El Shakankiri N.M."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "El Shakankiri N.M."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "Habib A."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/author | "Habib A."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/date | "2020"xsd:gYear |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/name | "Eur. J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/name | "Eur. J. Med. Genet."xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/pages | "103917"xsd:string |
| http://purl.uniprot.org/citations/32201334 | http://purl.uniprot.org/core/pages | "103917"xsd:string |