Search for dissertations about: "epicanthus inversus syndrome BPES"
Found 1 swedish dissertation containing the words epicanthus inversus syndrome BPES.
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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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