Publication: The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort
The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort
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Zanoni, P., Steindl, K., Sticht, H., Oneda, B., Joset, P., Ivanovski, I., Horn, A. H. C., Cabello, E. M., Laube, J., Zweier, M., Baumer Wolz, A., Rauch, A., & Khan, N. (2023). The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. European Journal of Human Genetics, 31(7), 784–792. https://doi.org/10.1038/s41431-023-01320-0
Abstract
Abstract
Abstract
Pediatric Moyamoya Angiopathy (MMA) is a progressive intracranial occlusive arteriopathy that represents a leading cause of transient ischemic attacks and strokes in childhood. Despite this, up to now no large, exclusively pediatric MMA cohort has been subjected to systematic genetic investigation. In this study, we performed molecular karyotyping, exome sequencing and automated structural assessment of missense variants on a series of 88 pediatric MMA patients and correlated genetic, angiographic and clinical (stroke burden) findings
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Creators (Authors)
- Zanoni, Paolo
- Sticht, Heinrich
- Oneda, Beatrice
- Joset, Pascal
- Horn, Anselm H C
- Laube, Julia
- Rauch, Anita
- Khan, Nadia
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Citations
Zanoni, P., Steindl, K., Sticht, H., Oneda, B., Joset, P., Ivanovski, I., Horn, A. H. C., Cabello, E. M., Laube, J., Zweier, M., Baumer Wolz, A., Rauch, A., & Khan, N. (2023). The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. European Journal of Human Genetics, 31(7), 784–792. https://doi.org/10.1038/s41431-023-01320-0
