Search for dissertations about: "Blepharophimosis"
Found 2 swedish dissertations containing the word Blepharophimosis.
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1. Genomic rearrangements at the cause of three genetic disorders in man
Abstract : Genomic rearrangements are a common cause of genetic disorders in man. This thesis describes the analysis of genomic rearrangements observed in patients with the Hunter syndrome (MPS II), incontinentia pigmenti (IP) and the Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES). MPS II is an X-linked recessive lysosomal storage disorder. READ MORE
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2. Visuo-motor performance in children visually impaired due to fetal alcohol syndrome (FAS)
Abstract : Purpose: To investigate the ophthalmological characteristics and to evaluate the magnocellular function in Russian orphanage children with fetal alcohol syndrome (FAS). Methods: In the study 100 children aged 10-16 from Russian (St Petersburg) orphanages were examined: 50 with FAS and 50 control children. READ MORE