La sindrome di Marfan e alcune malattie correlate possono interessare gli occhi in svariati modi, ad esempio causando lo spostamento del cristallino e altri problemi oculari in grado di compromettere la vista. Fatta eccezione per lo spostamento del cristallino, questi problemi oculari possono verificarsi anche nella popolazione generale e questo è il motivo per cui i medici non sempre si accorgono che sono causati dalla sindrome di Marfan. È importante sapere che, benché questi problemi si verifichino anche nella popolazione generale, sono molto più comuni in chi è affetto da sindrome di Marfan.
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Shprintzen-Goldberg Syndrome Fact Sheet
Shprintzen-Goldberg Syndrome is a condition that affects many parts of the body. People who have this syndrome have a combination of unique facial features and skeletal and neurological abnormalities. Shprintzen-Goldberg syndrome is caused by genetic changes (mutations) in a gene that contributes to the formation of connective tissue. How prevalent is Shprintzen-Goldberg syndrome? What are […]
Everest Grant
This is a large, multi-institutional, transformational grant designed to “reach the summit” on a critical path to a breakthrough in basic or translational science that has direct relevance to human health. It must include an institutionally funded graduate student or fellow. Engagement of multi-disciplinary investigators or pharma is highly desirable. Single grant of $200,000 per […]
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ACMG Directories
The American College of Medical Genetics has a medical genetics database you can use to find a knowledgeable geneticist in your area. Helpful search terms include: connective tissue, bone/skeletal disorders, cardiovascular/connective tissue, adult congenital heart disease, adult medical genetics, pediatric genetics, and genetics counseling.
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