Molecular-genetic basis of Rubinstein–Taybi syndrome
نویسندگان
چکیده
Rubinstein–Taybi syndrome is a multisystem pathology characterized by mental retardation and delayed physical development in combination with set of phenotypic features, which make up recognizable pattern the disease. This review literature highlights molecular‑genetic basis presumed pathogenesis syndrome, considers questions geno‑phenotypic correlations differential diagnosis group pathologies called chromatinopathies.
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ژورنال
عنوان ژورنال: Nervno-myše?nye bolezni
سال: 2023
ISSN: ['2222-8721', '2413-0443']
DOI: https://doi.org/10.17650/2222-8721-2023-13-2-31-41