dc.contributor.author | Kavaslar, GN | |
dc.contributor.author | Onengut, S | |
dc.contributor.author | Derman, O | |
dc.contributor.author | Kaya, A | |
dc.contributor.author | Tolun, A | |
dc.date.accessioned | 2019-12-10T10:51:37Z | |
dc.date.available | 2019-12-10T10:51:37Z | |
dc.date.issued | 2000 | |
dc.identifier.issn | 0002-9297 | |
dc.identifier.uri | https://doi.org/10.1086/302898 | |
dc.identifier.uri | http://hdl.handle.net/11655/14460 | |
dc.description.abstract | We studied a large consanguineous Anatolian family with children who exhibited hydranencephaly associated with microcephaly. The children were severely affected. This novel genetic disorder is autosomal recessive. We used autozygosity mapping to identify a locus at chromosome 16p13.3-12.1; it has a LOD score of 4.11. The gene locus is within a maximal 11-cM interval between markers D16S497 and D16S672 and within a minimal critical region of 8 cM between markers D16S748 and D16S490. | |
dc.language.iso | en | |
dc.publisher | Univ Chicago Press | |
dc.relation.isversionof | 10.1086/302898 | |
dc.rights | info:eu-repo/semantics/openAccess | |
dc.subject | Genetics & Heredity | |
dc.title | The Novel Genetic Disorder Microhydranencephaly Maps To Chromosome 16P13.3-12.1 | |
dc.type | info:eu-repo/semantics/article | |
dc.type | info:eu-repo/semantics/publishedVersion | |
dc.relation.journal | American Journal Of Human Genetics | |
dc.contributor.department | Çocuk Sağlığı ve Hastalıkları | |
dc.identifier.volume | 66 | |
dc.identifier.issue | 5 | |
dc.identifier.startpage | 1705 | |
dc.identifier.endpage | 1709 | |
dc.description.index | WoS | |
dc.description.index | Scopus | |