机译:Compound Heterozygous Mutations Involving Splicing Mutations Cause Rothmund-Thomson Syndrome in Two Chinese Families
Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 200092 China;
Institute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai 200092 China.;
Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 200092 ChinaInstitute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai 200092 China.;
Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 200092 ChinaInstitute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai 200092 China.;
Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 200092 ChinaInstitute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai 200092 China.;
Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 200092 ChinaInstitute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai 200092 China.;
Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 200092 ChinaInstitute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai 200092 China.;
Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 200092 China;
Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 200092 ChinaInstitute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai 200092 China.;
Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 200092 ChinaInstitute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai 200092 China.;
Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 200092 China;
Department of Dermatology Xinhua Hospital Shanghai Jiaotong University School of Medicine Shanghai 200092 ChinaInstitute of Dermatology Shanghai Jiaotong University School of Medicine Shanghai 200092 China.;
exon-skipping; genodermatosis; RECQL4 variants; Rothmund-Thomson syndrome; splice-site mutation;
机译:a splice-site mutation leads to haploinsufficiency of EXT2 mRNa for a dominant trait in a large family with multiple osteochondromas.