Publication: Ellis Van-Creveld Syndrome in an Ethnic Group in Nepal: Case Report with Review of Literature
| creativeworkseries.issn | ISSN 1990-7974 eISSN 1990-7982 | |
| dc.contributor.author | Gauchan, Eva | |
| dc.contributor.author | Sharma, Prakash | |
| dc.date.accessioned | 2026-03-11T08:47:41Z | |
| dc.date.available | 2026-03-11T08:47:41Z | |
| dc.date.issued | 2016 | |
| dc.description | Eva Gauchan Manipal College of Medical Sciences, Fulbari, Pokhara Prakash Sharma Manipal College of Medical Sciences, Fulbari, Pokhara | |
| dc.description.abstract | Abstract: Ellis van-Creveld syndrome is a rare autosomal recessive disorder characterized by acromesomelic dwarfism, postaxial polydactyly, oro-dental abnormalities and congenital heart disease. We are reporting three cases in two families of the same ethnic group from Western Nepal. Genetic testing should be done in this population in order to identify the mutation in the gene causing the syndrome. | |
| dc.identifier | https://doi.org/10.3126/jnps.v36i2.15450 | |
| dc.identifier.uri | https://hdl.handle.net/20.500.14572/5050 | |
| dc.language.iso | en_US | |
| dc.publisher | Nepal Paediatric Society (JNPS) | |
| dc.subject | Ellis van-Creveld syndrome | |
| dc.subject | ethnic groups | |
| dc.subject | Nepal | |
| dc.title | Ellis Van-Creveld Syndrome in an Ethnic Group in Nepal: Case Report with Review of Literature | |
| dc.type | Article | |
| dspace.entity.type | Publication | |
| local.article.type | Case Report | |
| oaire.citation.endPage | 192 | |
| oaire.citation.startPage | 188 | |
| relation.isJournalIssueOfPublication | a4a1c5f9-b057-4cf3-a8bb-a243c2b45f58 | |
| relation.isJournalIssueOfPublication.latestForDiscovery | a4a1c5f9-b057-4cf3-a8bb-a243c2b45f58 | |
| relation.isJournalOfPublication | 6f9be05c-05a9-4a3e-a5b5-a19a15ab042c |