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...

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Detalles Bibliográficos
Autores principales: Wang, Yunan, Liu, Chang, Hu, Rong, Geng, Juan, Lu, Jian, Zhao, Xianzhe, Xiong, Ying, Wu, Jing, Yin, Aihua
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Pediatrics
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

Internet

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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