http://purl.uniprot.org/citations/28258662 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/28258662 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/28258662 | http://www.w3.org/2000/01/rdf-schema#comment | "ObjectiveTo characterize clinical features and identify genetic causes of a patient with oculodentodigital dysplasia (ODDD).Subjects and methodsClinical, dental, radiological features were obtained. DNA was collected from an affected Thai family. Whole-exome sequencing was employed to identify the disease-causing mutation causing ODDD. The presence of the identified variant was confirmed by Sanger sequencing.ResultsThe proband suffered with extensive enamel hypoplasia, polysyndactyly and clinodactyly of the 3rd-5th fingers, microphthalmia, and unique facial characteristics of ODDD. Mutation analysis revealed a novel missense mutation, c. 31C>A, p.L11I, in the GJA1 gene which encodes gap junction channel protein connexin 43. Bioinformatics and structural modeling suggested the mutation to be pathogenic. The parents did not harbor the mutation.ConclusionsThis study identified a novel de novo mutation in the GJA1 gene associated with severe tooth defects. These results expand the mutation spectrum and understanding of pathologic dental phenotypes related to ODDD."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.org/dc/terms/identifier | "doi:10.1111/odi.12663"xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.org/dc/terms/identifier | "doi:10.1111/odi.12663"xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/author | "Shotelersuk V."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/author | "Shotelersuk V."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/author | "Suphapeetiporn K."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/author | "Suphapeetiporn K."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/author | "Ohazama A."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/author | "Ohazama A."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/author | "Porntaveetus T."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/author | "Porntaveetus T."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/author | "Srichomthong C."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/author | "Srichomthong C."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/date | "2017"xsd:gYear |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/name | "Oral Dis."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/name | "Oral Dis."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/pages | "795-800"xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/pages | "795-800"xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/title | "A novel GJA1 mutation in oculodentodigitaldysplasia with extensive loss of enamel."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/title | "A novel GJA1 mutation in oculodentodigitaldysplasia with extensive loss of enamel."xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/volume | "23"xsd:string |
http://purl.uniprot.org/citations/28258662 | http://purl.uniprot.org/core/volume | "23"xsd:string |