The Novel Genetic Disorder Microhydranencephaly Maps To Chromosome 16P13.3-12.1

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