Matches in SemOpenAlex for { <https://semopenalex.org/work/W2802243382> ?p ?o ?g. }
Showing items 1 to 96 of
96
with 100 items per page.
- W2802243382 abstract "Multiple epiphyseal dysplasia (MED) is a heterogeneous genetic condition characterized by variable phenotypes, such as short stature (mild to moderate), joint deformities, abnormal gait, scoliosis, and brachydactyly. Recessive mutations in the SLC26A2 gene cause a phenotype of multiple epiphyseal dysplasia-4 (MED-4). In the present study, we identified novel compound heterozygous mutations in the SLC26A2 gene in a Chinese family with two affected sibs with MED-4.Radiographs revealed hip dysplasia, brachydactyly and scoliosis in patient 1. Radiological examinations in patient 2 also showed hip dysplasia recently. Both of them were diagnosed with MED-4. SLC26A2 c.824 T > C and SLC26A2 c.1198C > T were identified in two siblings in this family, which were inherited from both parents, one mutation from each.This is the first Chinese MED-4 family attributed to SLC26A2 mutations, and these results show that these novel compound heterozygous mutations in SLC26A2 contribute to MED-4." @default.
- W2802243382 created "2018-05-17" @default.
- W2802243382 creator A5003760398 @default.
- W2802243382 creator A5005887396 @default.
- W2802243382 creator A5037878631 @default.
- W2802243382 creator A5043951146 @default.
- W2802243382 creator A5049344677 @default.
- W2802243382 creator A5074200539 @default.
- W2802243382 creator A5083219321 @default.
- W2802243382 creator A5085249009 @default.
- W2802243382 creator A5088321212 @default.
- W2802243382 date "2018-05-03" @default.
- W2802243382 modified "2023-10-09" @default.
- W2802243382 title "Dual novel mutations in SLC26A2 in two siblings with multiple epiphyseal dysplasia 4 from a Chinese family: a case report" @default.
- W2802243382 cites W1595542501 @default.
- W2802243382 cites W1859561559 @default.
- W2802243382 cites W1999494525 @default.
- W2802243382 cites W2016283013 @default.
- W2802243382 cites W2020328067 @default.
- W2802243382 cites W2034140040 @default.
- W2802243382 cites W2074284216 @default.
- W2802243382 cites W2080446840 @default.
- W2802243382 cites W2096589680 @default.
- W2802243382 cites W2115118303 @default.
- W2802243382 cites W2128368643 @default.
- W2802243382 cites W2147841068 @default.
- W2802243382 cites W2161440883 @default.
- W2802243382 cites W2163755040 @default.
- W2802243382 cites W2762729516 @default.
- W2802243382 cites W2994593180 @default.
- W2802243382 doi "https://doi.org/10.1186/s12881-018-0596-7" @default.
- W2802243382 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5934830" @default.
- W2802243382 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/29724173" @default.
- W2802243382 hasPublicationYear "2018" @default.
- W2802243382 type Work @default.
- W2802243382 sameAs 2802243382 @default.
- W2802243382 citedByCount "2" @default.
- W2802243382 countsByYear W28022433822019 @default.
- W2802243382 countsByYear W28022433822021 @default.
- W2802243382 crossrefType "journal-article" @default.
- W2802243382 hasAuthorship W2802243382A5003760398 @default.
- W2802243382 hasAuthorship W2802243382A5005887396 @default.
- W2802243382 hasAuthorship W2802243382A5037878631 @default.
- W2802243382 hasAuthorship W2802243382A5043951146 @default.
- W2802243382 hasAuthorship W2802243382A5049344677 @default.
- W2802243382 hasAuthorship W2802243382A5074200539 @default.
- W2802243382 hasAuthorship W2802243382A5083219321 @default.
- W2802243382 hasAuthorship W2802243382A5085249009 @default.
- W2802243382 hasAuthorship W2802243382A5088321212 @default.
- W2802243382 hasBestOaLocation W28022433821 @default.
- W2802243382 hasConcept C104317684 @default.
- W2802243382 hasConcept C12125453 @default.
- W2802243382 hasConcept C127716648 @default.
- W2802243382 hasConcept C187212893 @default.
- W2802243382 hasConcept C2775894508 @default.
- W2802243382 hasConcept C2777871287 @default.
- W2802243382 hasConcept C2780955175 @default.
- W2802243382 hasConcept C2781133459 @default.
- W2802243382 hasConcept C501734568 @default.
- W2802243382 hasConcept C54355233 @default.
- W2802243382 hasConcept C71924100 @default.
- W2802243382 hasConcept C86803240 @default.
- W2802243382 hasConceptScore W2802243382C104317684 @default.
- W2802243382 hasConceptScore W2802243382C12125453 @default.
- W2802243382 hasConceptScore W2802243382C127716648 @default.
- W2802243382 hasConceptScore W2802243382C187212893 @default.
- W2802243382 hasConceptScore W2802243382C2775894508 @default.
- W2802243382 hasConceptScore W2802243382C2777871287 @default.
- W2802243382 hasConceptScore W2802243382C2780955175 @default.
- W2802243382 hasConceptScore W2802243382C2781133459 @default.
- W2802243382 hasConceptScore W2802243382C501734568 @default.
- W2802243382 hasConceptScore W2802243382C54355233 @default.
- W2802243382 hasConceptScore W2802243382C71924100 @default.
- W2802243382 hasConceptScore W2802243382C86803240 @default.
- W2802243382 hasFunder F4320321001 @default.
- W2802243382 hasFunder F4320334898 @default.
- W2802243382 hasLocation W28022433821 @default.
- W2802243382 hasLocation W28022433822 @default.
- W2802243382 hasLocation W28022433823 @default.
- W2802243382 hasLocation W28022433824 @default.
- W2802243382 hasOpenAccess W2802243382 @default.
- W2802243382 hasPrimaryLocation W28022433821 @default.
- W2802243382 hasRelatedWork W2023056161 @default.
- W2802243382 hasRelatedWork W2053877131 @default.
- W2802243382 hasRelatedWork W2075438665 @default.
- W2802243382 hasRelatedWork W2143652908 @default.
- W2802243382 hasRelatedWork W2762729516 @default.
- W2802243382 hasRelatedWork W2792080133 @default.
- W2802243382 hasRelatedWork W2802243382 @default.
- W2802243382 hasRelatedWork W3024168541 @default.
- W2802243382 hasRelatedWork W3118975915 @default.
- W2802243382 hasRelatedWork W3125309361 @default.
- W2802243382 isParatext "false" @default.
- W2802243382 isRetracted "false" @default.
- W2802243382 magId "2802243382" @default.
- W2802243382 workType "article" @default.