What is it about?
This is a presentation of two different families who have high tortuosity of the arteries. Arterial tortuosity is a severe disease causing severe disfunction of the lungs, brain and other organs. We have detected mutations of the gene causing the disease.
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Why is it important?
We have shown variability of the disease depending on the mutations. The original finding is the associated tortuosity of the brain arterise that has been rarely described. The findings are very important for genetic counselling. We suggest familial analysis when it is deteted since clinical variability is significant.
Perspectives
This article was a grat experience or our team due to the coollaboration with experienced genetic laboratories and due to the expansion on our experience with rare disease who should have individual genetic and clinical approach.
Prof Dr Mirjna Kocova
Read the Original
This page is a summary of: Clinical variability in two Macedonian families with Arterial tortuosity syndrome, Balkan Journal of Medical Genetics, October 2018, De Gruyter,
DOI: 10.2478/bjmg-2018-0009.
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