Rubinstein-Taybi Syndrome at a 4-year-old child: a clinical case

The aim of the article is to present clinical experience of studying the patient with a genetic syndrome of Rubinstein — Taybi at the department of Hospital Pediatrics at Saratov Clinical Hospital n.a. S. R. Mirotvortsev. It is necessary to mention that the described pathology is a rare autosomal do...

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Published inSaratovskiĭ nauchno-medit͡s︡inskiĭ zhurnal Vol. 12; no. 4; pp. 578 - 581
Main Authors Chernenkov Yu.V., Eyberman A.S., Belova G.Yu, Maltseva L.A.
Format Journal Article
LanguageRussian
Published Saratov State Medical University 01.12.2016
Subjects
child
CREBBP gene
Rubinstein-Taybi syndrome
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Summary:The aim of the article is to present clinical experience of studying the patient with a genetic syndrome of Rubinstein — Taybi at the department of Hospital Pediatrics at Saratov Clinical Hospital n.a. S. R. Mirotvortsev. It is necessary to mention that the described pathology is a rare autosomal dominant disease shown by plural developmental anomalies and determines great attention from the practical point of view.
ISSN:2076-2518