| http://purl.uniprot.org/citations/24453141 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24453141 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/24453141 | http://www.w3.org/2000/01/rdf-schema#comment | "The NKX2-1 (TTF-1 or TITF-1) gene on chromosome 14q13 codes for the thyroid transcription factor 1 (TTF-1). It is expressed in the developing brain, lung, and thyroid. Defects have been associated with chorea, hypothyroidism, and lung disease, comprising the "brain-thyroid-lung syndrome." We describe here 3 cases of novel missense mutation (c.626G>C; p.Arg209Pro) in NKX2-1 in 2 generations of a nonconsanguinous family. Firstly 2 sons were affected by childhood-onset hypothyroidism and a movement disorder characterized by ataxia in the early years followed by the emergence of a superimposed chorea. The mutation was also found in the granddaughter, when she presented with the same clinical features. We hypothesize that the mutation arose as a result of gonadal mosaicism, as the mutation was not detected in leucocyte DNA from either grandparent. The features are consistent with a diagnosis of Brain-thyroid-lung syndrome, which previously could have been classified as benign hereditary chorea with hypothyroidism."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.org/dc/terms/identifier | "doi:10.1177/0883073813518243"xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.org/dc/terms/identifier | "doi:10.1177/0883073813518243"xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/author | "Goudie D."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/author | "Goudie D."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/author | "Kirkpatrick M."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/author | "Kirkpatrick M."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/author | "Greene S."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/author | "Greene S."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/author | "Williamson S."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/author | "Williamson S."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/date | "2014"xsd:gYear |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/name | "J. Child Neurol."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/name | "J. Child Neurol."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/pages | "666-669"xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/pages | "666-669"xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/title | "A novel mutation of NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: part of the spectrum of brain-thyroid-lung syndrome."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/title | "A novel mutation of NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: part of the spectrum of brain-thyroid-lung syndrome."xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/volume | "29"xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://purl.uniprot.org/core/volume | "29"xsd:string |
| http://purl.uniprot.org/citations/24453141 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24453141 |
| http://purl.uniprot.org/citations/24453141 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/24453141 |