Sökning: "Incontinentia pigmenti IP"
Hittade 2 avhandlingar innehållade orden Incontinentia pigmenti IP.
1. Genomic rearrangements at the cause of three genetic disorders in man
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
2. Eosinophilic dermatosis implications of skin-commensal bacteria and antimicrobial peptides and proteins at birth
Sammanfattning : At birth, the newborn infant is transferred from a sterile life in utero to an earthly life in coexistence with microbes. This transition includes the potential danger of a microbial invasion through the epithelial linings, and the infant must find a balance between elimination of harmful pathogens and cooperation with microorganisms that are of benefit. LÄS MER