Clinical and genetic characteristics of 21 children with Rubinstein-Taybi syndrome
Objective: To investigate the phenotypes of Rubinstein-Taybi syndrome (RSTS) caused by variants in the CREBBP or EP300 gene, and the correlation between genotype and phenotype. Methods: This case series study was performed on pediatric patients who were referred to the Children's Hospital of Ca...
Ausführliche Beschreibung
Bibliographische Detailangaben
| Veröffentlicht in: | Zhonghua er ke za zhi = Chinese journal of pediatrics. - 1960. - 62(2024), 4 vom: 25. März, Seite 351-356
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| 1. Verfasser: |
Yang, S H
(VerfasserIn) |
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| Weitere Verfasser: |
Liu, H R,
Li, J Y,
Zhang, Y,
Liu, Z Q,
Wang, L,
Chen, X L,
Shangguan, S F |
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| Format: | Online-Aufsatz
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| Sprache: | Chinese |
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| Veröffentlicht: |
2024
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| Zugriff auf das übergeordnete Werk: | Zhonghua er ke za zhi = Chinese journal of pediatrics
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| Schlagworte: | English Abstract
Journal Article
CREB-Binding Protein
EC 2.3.1.48 |
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