Молекулярно-генетические основы синдрома Рубинштейна–Тейби

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Синдром Рубинштейна–Тейби – мультисистемная патология, характеризующаяся умственной отсталостью и задержкой физического развития в сочетании с набором фенотипических признаков, составляющих узнаваемую картину заболевания. В данном обзоре литературы освещены молекулярно‑генетические основы и предполагаемый патогенез синдрома Рубинштейна–Тейби, рассмотрены вопросы гено‑фенотипических корреляций и дифференциальной диагностики в группе хроматинопатий.

Об авторах

О. Р. Исмагилова

ФГБНУ «Медико-генетический научный центр им. акад. Н. П. Бочкова» Минобрнауки России

Автор, ответственный за переписку.
Email: ismolga.mg@mail.ru

Ольга Раисовна Исмагилова

115522 Москва, ул. Москворечье, 1

Россия

Т. С. Бескоровайная

ФГБНУ «Медико-генетический научный центр им. акад. Н. П. Бочкова» Минобрнауки России

Email: fake@neicon.ru

115522 Москва, ул. Москворечье, 1

Россия

Т. А. Адян

ФГБНУ «Медико-генетический научный центр им. акад. Н. П. Бочкова» Минобрнауки России; ФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н. И. Пирогова»
Минздрава России

Email: fake@neicon.ru

115522 Москва, ул. Москворечье, 1

117997 Москва, ул. Островитянова, 1

Россия

А. В. Поляков

ФГБНУ «Медико-генетический научный центр им. акад. Н. П. Бочкова» Минобрнауки России

Email: fake@neicon.ru

115522 Москва, ул. Москворечье, 1

Россия

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