Sökning: "Blepharophimosis"

Hittade 2 avhandlingar innehållade ordet Blepharophimosis.

  1. 1. Genomic rearrangements at the cause of three genetic disorders in man

    Författare :Kristina Lagerstedt; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Mucopolysaccharidosis type II MPS II ; The Hunter syndrome; Incontinentia pigmenti IP ; Blepharophimosis; ptosis; epicanthus inversus syndrome BPES ; mutational analysis; nonhomologous end joining NHEJ ; homologous recombination HR ; Genetik; Clinical genetics; Klinisk genetik; Medical Genetics; medicinsk genetik;

    Sammanfattning : 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. LÄS MER

  3. 2. Visuo-motor performance in children visually impaired due to fetal alcohol syndrome (FAS)

    Författare :Kristina Gummel; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : 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. LÄS MER