Xp22.31 copy number variations in 87 fetuses: refined genotype-phenotype correlations by prenatal and postnatal follow-up

• Главные авторы: Huamei Hu (Автор), Yulin Huang (Автор), Renke Hou (Автор), Huanhuan Xu (Автор), Yalan Liu (Автор), Xueqian Liao (Автор), Juchun Xu (Автор), Lupin Jiang (Автор), Dan Wang (Автор)
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• Опубликовано: BMC, 2023-04-01T00:00:00Z.
• Предметы: article
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Abstract Background Xp22.31 deletion and duplication have been described in various studies, but different laboratories interpret pathogenicity differently. Objectives Our study aimed to refine the genotype-phenotype associations between Xp22.31 copy number variants in fetuses, with the aim of provi...