Article
Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome.
Annals of Saudi medicine - 1 Jan 2000
Orenay-Boyacioglu Seda, Tekin Mustafa, Dundar Munis
Abstract excerpt
BACKGROUND AND OBJECTIVES: Blindness-scoliosis-arachnodactyly syndrome has been described in a family with parental consanguinity. We present the strategy employed to determine the gene locus responsible for the syndrome. DESIGN AND SETTING: A retrospective study of blindness-scoliosis-arachnodactyly syndrome patients at the Department of Medical Genetics, Erciyes University, between 2009-2010. PATIENTS AND...
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