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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2022
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Materias: | |
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 |