A novel CREBBP mutation and its phenotype in a case of Rubinstein–Taybi syndrome

BACKGROUND: This study was to report a novel CREBBP mutation and phenotype in a child with Rubinstein–Taybi syndrome. METHODS: Case report of a 9-year-old boy. RESULTS: We described the patient’s clinical manifestations in detail, and found that in addition to the typical systemic manifestations of...

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Detalles Bibliográficos
Autores principales: Wang, Qian, Wang, Cong, Wei, Wen Bin, Rong, Wei Ning, Shi, Xiang Yu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9389776/
https://www.ncbi.nlm.nih.gov/pubmed/35986282
http://dx.doi.org/10.1186/s12920-022-01335-4

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