Autozygosity in a Turkish family with scoliosis, blindness, and arachnodactyly syndrome

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-arachnodactyl...

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Detalles Bibliográficos
Autores principales: Orenay-Boyacioglu, Seda, Tekin, Mustafa, Dundar, Munis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: King Faisal Specialist Hospital and Research Centre 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074473/
https://www.ncbi.nlm.nih.gov/pubmed/26657231
http://dx.doi.org/10.5144/0256-4947.2015.462

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6074473/
https://www.ncbi.nlm.nih.gov/pubmed/26657231
http://dx.doi.org/10.5144/0256-4947.2015.462

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