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Prenatal diagnosis of 7q11.23 microdeletion: Two cases report and literature review
RATIONALE: Chromosome microdeletions within 7q11.23 can result in Williams-Beuren syndrome which is a rare autosomal dominant disorder. Williams-Beuren syndrome is usually associated with developmental delay, cardiovascular anomalies, mental retardation, and characteristic facial appearance. PATIENT...
Autores principales: | Lv, Xin, Yang, Xiao, Li, Linlin, Yue, Fagui, Zhang, Hongguo, Wang, Ruixue |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Lippincott Williams & Wilkins
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10615468/ https://www.ncbi.nlm.nih.gov/pubmed/37904428 http://dx.doi.org/10.1097/MD.0000000000034852 |
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