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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Auteurs principaux:	Olga R. Ismagilova, Tagui A. Adyan, Tatiana S. Beskorovainaya, Alexander V. Polyakov
Format:	Artigo
Langue:	Inglês
Publié:	Frontiers Media S.A. 2025-01-01
Collection:	Frontiers in Genetics
Sujets:	multiple congenital anomaly syndrome Rubinstein–Taybi syndrome CREBBP EP300 next-generation sequencing multiplex ligation-dependent probe amplification
Accès en ligne:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1516565/full
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