Objective: This paper explores factors that influence the formulation of risk perception among men with a family history of prostate cancer who are currently attending a prostate cancer screening clinic.
Methods: Semi-structured interviews were conducted with fifteen participants. Interview transcripts were analyzed using interpretative phenomenological analysis.
Peters Plus syndrome comprises ocular anterior segment dysgenesis (most commonly Peters anomaly), short stature, hand anomalies, distinctive facial features, and often other additional defects and is inherited in an autosomal-recessive pattern. Mutations in the beta1,3-glucosyltransferase gene (B3GALTL) were recently reported in 20 out of 20 patients with Peters Plus syndrome. In our study, B3GALTL was examined in four patients with typical Peters Plus syndrome and four patients that demonstrated a phenotypic overlap with this condition.
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