| dc.contributor.author | Saidkhonova A.M., Mirrakhimova M.Kh. | |
| dc.date.accessioned | 2025-12-16T05:45:25Z | |
| dc.date.available | 2025-12-16T05:45:25Z | |
| dc.date.issued | 2025 | |
| dc.identifier.issn | 2181-7812 | |
| dc.identifier.uri | http://repo.tma.uz/xmlui/handle/1/2668 | |
| dc.description.abstract | Cornelia de Lange syndrome is an archetypical genetic syndrome that is characterized by intellectual disability, well-defined facial features, upper limb anomalies and atypical growth, among numerous other signs and symp toms. This article describes the the clinical observation of a 6-year-old patient treated with the diagnosis of Corne lius de Lange syndrome in the multidisciplinary clinic of the Tashkent Medical Academy. | en_US |
| dc.language.iso | other | en_US |
| dc.publisher | O'zbekiston, Toshkent | en_US |
| dc.relation.ispartofseries | UDK;616-008.6-056.7 | |
| dc.subject | Cornelia de Lange syndrome, clinical ob servation, children, multiple malformations, pneumonia, Amsterdam dwarfism, Brahman de Lange syndrome | en_US |
| dc.title | RARE DISEASE CORNELIA DE LANGE SYNDROME: DIAGNOSTIC CRITERIA. CASE FROM PRACTICE | en_US |
| dc.type | Article | en_US |