Molecular-genetic basis of Rubinstein–Taybi syndrome
https://doi.org/10.17650/2222-8721-2023-13-2-31-41
Abstract
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.
About the Authors
O. R. Ismagilova
N. P. Bochkov Medical Genetic Research Center
Russian Federation
Russian Federation
Оlga Raisovna Ismagilova
1 Moskvorechye St., Moscow 115522
T. S. Beskorovaynaya
N. P. Bochkov Medical Genetic Research Center
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
T. A. Adyan
N. P. Bochkov Medical Genetic Research Center; N. I. Pirogov Russian National Research Medical University of the Ministry of Health of Russia
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
1 Ostrovityanova St., Moscow 117997
A. V. Polyakov
N. P. Bochkov Medical Genetic Research Center
Russian Federation
Russian Federation
1 Moskvorechye St., Moscow 115522
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Ismagilova O.R., Beskorovaynaya T.S., Adyan T.A., Polyakov A.V. Molecular-genetic basis of Rubinstein–Taybi syndrome. Neuromuscular Diseases. 2023;13(2):31-41. (In Russ.) https://doi.org/10.17650/2222-8721-2023-13-2-31-41
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