Molecular-genetic basis of Rubinstein–Taybi syndrome-Reference-Cited by-同舟云学术

Molecular-genetic basis of Rubinstein–Taybi syndrome

Published:2023-06-15 Issue:2 Volume:13 Page:31-41
ISSN:2413-0443
Container-title:Neuromuscular Diseases
language:
Short-container-title:Neuromuscular Diseases

Author:

Ismagilova O. R.¹,Beskorovaynaya T. S.¹,Adyan T. A.²,Polyakov A. V.¹

Affiliation:

1. N. P. Bochkov Medical Genetic Research Center

2. N. P. Bochkov Medical Genetic Research Center; N. I. Pirogov Russian National Research Medical University of the Ministry of Health of Russia

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.

Publisher

Publishing House ABV Press

Subject

Neurology (clinical),Neurology

Reference100 articles.

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