| http://purl.uniprot.org/citations/22258522 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22258522 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22258522 | http://www.w3.org/2000/01/rdf-schema#comment | "PITX1 is a bicoid-related homeodomain transcription factor implicated in vertebrate hindlimb development. Recently, mutations in PITX1 have been associated with autosomal-dominant clubfoot. In addition, one affected individual showed a polydactyly and right-sided tibial hemimelia. We now report on PITX1 deletions in two fetuses with a high-degree polydactyly, that is, mirror-image polydactyly. Analysis of DNA from additional individuals with isolated lower-limb malformations and higher-degree polydactyly identified a third individual with long-bone deficiency and preaxial polydactyly harboring a heterozygous 35 bp deletion in PITX1. The findings demonstrate that mutations in PITX1 can cause a broad spectrum of isolated lower-limb malformations including clubfoot, deficiency of long bones, and mirror-image polydactyly."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2011.264"xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.org/dc/terms/identifier | "doi:10.1038/ejhg.2011.264"xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Vogel H."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Vogel H."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Joseph B."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Joseph B."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Held K."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Held K."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Mundlos S."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Mundlos S."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Kurth I."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Kurth I."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Foulds N."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Foulds N."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Shah H."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Shah H."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Klopocki E."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Klopocki E."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Bald R."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Bald R."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Besoke R."xsd:string |
| http://purl.uniprot.org/citations/22258522 | http://purl.uniprot.org/core/author | "Besoke R."xsd:string |