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Молекулярно-генетические основы вариабельности клинических проявлений синдрома Марфана
https://doi.org/10.21508/1027-4065-2023-68-2-29-38
Аннотация
Синдром Марфана — наследственное заболевание соединительной ткани с аутосомно-доминантным типом наследования. Заболевание отличается выраженной фенотипической вариабельностью, причиной которой, высоковероятно, служат генетические модификаторы. В обзоре дана информация о молекулярной характеристике фибриллина-1 — белкового продукта гена FBN1, связанного с возникновением синдрома Марфана. Представлены сведения об изученных к настоящему вемени корреляциях генотип–фенотип, а также результаты поиска возможных генетических модификаторов.
Об авторах
Д. Ю. Грицевская
ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России
Россия
Россия
Грицевская Дарья Юрьевна — аспирант
125412 Москва, ул. Талдомская, д. 2
А. В. Смирнова
ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России
Россия
Россия
Смирнова Анна Викторовна — лаборант-исследователь лаборатории клинической геномики и биоинформатики
125412 Москва, ул. Талдомская, д. 2
В. Ю. Воинова
ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава России
Россия
Россия
Воинова Виктория Юрьевна — доктор медицинских наук, главный научный сотрудник отдела клинической генетики
125412 Москва, ул. Талдомская, д. 2
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Рецензия
Для цитирования:
Грицевская Д.Ю., Смирнова А.В., Воинова В.Ю. Молекулярно-генетические основы вариабельности клинических проявлений синдрома Марфана. Российский вестник перинатологии и педиатрии. 2023;68(2):29-38. https://doi.org/10.21508/1027-4065-2023-68-2-29-38
For citation:
Gritsevskaya D.Yu., Smirnova A.V., Voinova V.Yu. Molecular and genetic basis of variability in clinical manifestations of Marfan syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2023;68(2):29-38. (In Russ.) https://doi.org/10.21508/1027-4065-2023-68-2-29-38
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