| http://purl.uniprot.org/citations/28505061 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/28505061 | http://www.w3.org/2000/01/rdf-schema#comment | "Joubert syndrome (JBTS) is a clinically and genetically heterogeneous group of ciliopathy with a key diagnostic feature of 'molar tooth sign' in brain MRI. So far, over 20 causative genes have been identified, but only one gene (OFD1) results in X-linked Joubert syndrome 10 (JBTS10). Six mutations in the OFD1 gene have been found to cause JBTS10. In this study, we identified a novel OFD1 mutation of c.2843_2844 delAA (p.Lys948ArgfsX) in a 3-month-old boy with a 'molar tooth sign' and clinical features of JBTS using targeted exome next-generation sequencing. The de-novo OFD1 mutation in exon 21 leads to a frameshift mutation generating a prematurely truncated protein and is predicted to partly reduce the function of the OFD1 protein. Our study expands the genotype-phenotype spectrum in JBTS and will have applications in prenatal and early diagnosis of the disorder. This is the first report of the OFD1 mutation causing JBTS in a Chinese population."xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://purl.org/dc/terms/identifier | "doi:10.1097/mcd.0000000000000183"xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://purl.uniprot.org/core/author | "Liu Y."xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://purl.uniprot.org/core/author | "Lv Y."xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://purl.uniprot.org/core/author | "Ma J."xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://purl.uniprot.org/core/author | "Gao M."xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://purl.uniprot.org/core/author | "Zhang K."xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://purl.uniprot.org/core/author | "Gai Z."xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://purl.uniprot.org/core/author | "Meng C."xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
| http://purl.uniprot.org/citations/28505061 | http://purl.uniprot.org/core/name | "Clin Dysmorphol"xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://purl.uniprot.org/core/pages | "135-141"xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://purl.uniprot.org/core/title | "Novel OFD1 frameshift mutation in a Chinese boy with Joubert syndrome: a case report and literature review."xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://purl.uniprot.org/core/volume | "26"xsd:string |
| http://purl.uniprot.org/citations/28505061 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/28505061 |
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