Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients

Molecular genetic analysis of Rubinstein–Taybi syndrome in Russian patients

IntroductionRubinstein–Taybi syndrome (RSTS) is one of the many forms of syndromic intellectual disability, occurring in the population with a frequency of 1: 100–125 thousand newborns. The specific phenotype of patients enables the so-called “portrait” diagnosis of classical cases of RSTS, followed...

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Bibliographic Details
Main Authors: Olga R. Ismagilova, Tagui A. Adyan, Tatiana S. Beskorovainaya, Alexander V. Polyakov
Format: Article
Language:English
Published: Frontiers Media S.A. 2025-01-01
Series:Frontiers in Genetics
Subjects:
multiple congenital anomaly syndrome
Rubinstein–Taybi syndrome
CREBBP
EP300
next-generation sequencing
multiplex ligation-dependent probe amplification
Online Access:https://www.frontiersin.org/articles/10.3389/fgene.2025.1516565/full
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