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

Автор: Chernenkov Yu.V., Eyberman A.S., Belova G.Yu., Maltseva L.A.

Журнал: Саратовский научно-медицинский журнал @ssmj

Рубрика: Педиатрия

Статья в выпуске: 4 т.12, 2016 года.

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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.

Ген crebbp, crebbp gene, child, rubinstein-taybi syndrome

Короткий адрес: https://sciup.org/14918367

IDR: 14918367

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