A unique case of Bloom syndrome with a combination of genetic hits: A lesson from trio‑based exome sequencing: A case report
一例具有多种基因突变的布鲁姆综合征独特病例:基于三联体外显子组测序的启示:病例报告
期刊:Molecular Medicine Reports
影响因子:3.5
doi:10.3892/mmr.2023.12997
Wayhelova, Marketa; Vallova, Vladimira; Broz, Petr; Mikulasova, Aneta; Machackova, Dominika; Filkova, Hana Dynkova; Smetana, Jan; Takacsova, Alena; Gaillyova, Renata; Kuglik, Petr