Neuromuscular DiseasesNeuromuscular DiseasesНервно-мышечные болезни2222-87212413-0443Publishing House ABV Press54110.17650/2222-8721-2023-13-2-31-41LECTURES AND REVIEWSЛЕКЦИИ И ОБЗОРЫMolecular-genetic basis of Rubinstein–Taybi syndromeМолекулярно-генетические основы синдрома Рубинштейна–ТейбиIsmagilovaO. R.ИсмагиловаО. Р.
Russian Federation

Оlga Raisovna Ismagilova

1 Moskvorechye St., Moscow 115522

Ольга Раисовна Исмагилова

115522 Москва, ул. Москворечье, 1

ismolga.mg@mail.ruBeskorovaynayaT. S.БескоровайнаяТ. С.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

AdyanT. A.АдянТ. А.
Russian Federation

1 Moskvorechye St., Moscow 115522

1 Ostrovityanova St., Moscow 117997

115522 Москва, ул. Москворечье, 1

117997 Москва, ул. Островитянова, 1

PolyakovA. V.ПоляковА. В.
Russian Federation

1 Moskvorechye St., Moscow 115522

115522 Москва, ул. Москворечье, 1

N. P. Bochkov Medical Genetic Research CenterФГБНУ «Медико-генетический научный центр им. акад. Н. П. Бочкова» Минобрнауки РоссииN. I. Pirogov Russian National Research Medical University of the Ministry of Health of RussiaФГАОУ ВО «Российский национальный исследовательский медицинский университет им. Н. И. Пирогова» Минздрава России1606202313231411506202315062023Copyright ©; 2023, Ismagilova O.R., Beskorovaynaya T.S., Adyan T.A., Polyakov A.V.Copyright ©; 2023, Исмагилова О.Р., Бескоровайная Т.С., Адян Т.А., Поляков А.В.2023Ismagilova O.R., Beskorovaynaya T.S., Adyan T.A., Polyakov A.V.Исмагилова О.Р., Бескоровайная Т.С., Адян Т.А., Поляков А.В.https://creativecommons.org/licenses/by/4.0https://nmb.abvpress.ru/jour/article/view/541

Rubinstein–Taybi syndrome is a multisystem pathology characterized by mental retardation and delayed physical development in combination with a set of phenotypic features, which make up a recognizable pattern of the disease. This review of the literature highlights the molecular‑genetic basis and the presumed pathogenesis of the Rubinstein–Taybi syndrome, considers questions of geno‑phenotypic correlations and differential diagnosis in the group of pathologies called chromatinopathies.

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.

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