| http://purl.uniprot.org/citations/12794692 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12794692 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12794692 | http://www.w3.org/2000/01/rdf-schema#comment | "Greig cephalopolysyndactyly (GCPS) (OMIM 175700) is an autosomal dominant disorder characterized by a distinct combination of craniofacial, hand and foot malformations. In this report, clinical and radiological findings of 12 patients with GCPS derived from 4 independent families and 3 sporadic cases with documented GLI3 mutations are presented with particular emphasis on inter- and intrafamilial variability. In a particularly instructive family in which 9 members of 4 generations could be studied clinically and molecularly, a missense mutation (R625W) is transmitted and shows a partially penetrant pattern. In a branch of the family, the GCPS phenotype skips a generation via a normal female carrier without clinical signs providing evidence that GCPS does not always manifest full penetrance as generally supposed."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.20018"xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.20018"xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Grzeschik K.-H."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Grzeschik K.-H."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Devriendt K."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Devriendt K."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Matthijs G."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Matthijs G."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Peeters H."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Peeters H."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "De Smet L."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "De Smet L."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Fryns J.-P."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Fryns J.-P."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Bornholdt D."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Bornholdt D."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Kalff-Suske M."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Kalff-Suske M."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Debeer P."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Debeer P."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Driess S."xsd:string |
| http://purl.uniprot.org/citations/12794692 | http://purl.uniprot.org/core/author | "Driess S."xsd:string |