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Prenatal phenotype features and genetic etiology of the Williams-Beuren syndrome and literature review
OBJECTIVE: To share our experience on prenatal diagnosis of Williams-Beuren syndrome(WBS) and to improve the awareness, diagnosis, and intrauterine monitoring of the fetuses of this disease. METHODS: The study retrospectively evaluated 14 cases of WBS diagnosed prenatally by single nucleotide polymo...
Autores principales: | Wang, Yunan, Liu, Chang, Hu, Rong, Geng, Juan, Lu, Jian, Zhao, Xianzhe, Xiong, Ying, Wu, Jing, Yin, Aihua |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10063843/ https://www.ncbi.nlm.nih.gov/pubmed/37009295 http://dx.doi.org/10.3389/fped.2023.1141665 |
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