| http://purl.uniprot.org/citations/16955409 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16955409 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16955409 | http://www.w3.org/2000/01/rdf-schema#comment | "Mutations in the X-encoded gene ATRX are known to give rise to syndromic mental retardation in male patients whereas female carriers show preferential inactivation of the mutated X chromosome and appear healthy. Here, we describe a 4-year-old girl with typical features of ATRX syndrome, carrying the recurrent R246C mutation of ATRX. We show that her pattern of X-inactivation is totally skewed and that her active X chromosome which harbors the ATRX mutation, was maternally inherited. To our knowledge, this is the first report of ATRX syndrome in a female patient. Since she was born after in vitro fertilization (IVF), we propose a possible link between assisted reproduction technologies (ART) and the unexpected X chromosome methylation pattern that we observed."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.31400"xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.org/dc/terms/identifier | "doi:10.1002/ajmg.a.31400"xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "Levy N."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "Levy N."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "Edery P."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "Edery P."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "Badens C."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "Badens C."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "Courrier S."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "Courrier S."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "DesPortes V."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "DesPortes V."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "Martini N."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "Martini N."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "Touraine R."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/author | "Touraine R."xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/date | "2006"xsd:gYear |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet. A"xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/name | "Am. J. Med. Genet. A"xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/pages | "2212-2215"xsd:string |
| http://purl.uniprot.org/citations/16955409 | http://purl.uniprot.org/core/pages | "2212-2215"xsd:string |