Molecular genetic investigation of a novel skeletal patterning disorder, x-linked absent radius spectrum (XLARS)
Skeletal patterning disorders are a genetically heterogeneous group of congenital malformations, and may cause significant morbidity. X-linked limb reduction defects are rare. A family with a novel X-linked disorder characterised by absent radii and ulnae, hypoplastic thumbs, either short femora and...
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University of Newcastle Upon Tyne
2012
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| Online Access: | http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.612621 |