Rubinstein-Taybi Syndrome at a 4-year-old child: a clinical case
<p>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 aut...
Main Authors: | Chernenkov Yu.V., Eyberman A.S., Belova G.Yu., Maltseva L.A. |
---|---|
Format: | Article |
Language: | Russian |
Published: |
Saratov State Medical University
2016-12-01
|
Series: | Саратовский научно-медицинский журнал |
Subjects: | |
Online Access: | http://www.ssmj.ru/system/files/2016_04_578-581_1.pdf |
Similar Items
-
A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome
by: Qian Wang, et al.
Published: (2022-08-01) -
Genetic and clinical heterogeneity in Korean patients with Rubinstein–Taybi syndrome
by: Naye Choi, et al.
Published: (2021-10-01) -
Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein–Taybi Syndrome kids with high frequency of polydactyly
by: Sha Yu, et al.
Published: (2019-12-01) -
New insights into genetic variant spectrum and genotype–phenotype correlations of Rubinstein‐Taybi syndrome in 39 CREBBP‐positive patients
by: Virginia Pérez‐Grijalba, et al.
Published: (2019-11-01) -
Rubinstein-Taybi syndrome with psychosis
by: Raghavendra B Nayak, et al.
Published: (2012-01-01)