Publications:

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: F2: 575C>A

PubMed Link: 34819141

Variant Present in the following documents:

• Main text

View BVdb publication page

Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.

Orphanet Journal Of Rare Diseases

Lin, Yubi Y; Huang, Jiana J; Zhu, Zhiling Z; Zhang, Zuoquan Z; Xian, Jianzhong J; Yang, Zhe Z; Qin, Tingfeng T; Chen, Linxi L; Huang, Jingmin J; Huang, Yin Y; Wu, Qiaoyun Q; Hu, Zhenyu Z; Lin, Xiufang X; Xu, Geyang G

Publication Date: 2021-11-24

Variant appearance in text: F2: 575C>A

PubMed Link: 34819141

Variant Present in the following documents:

• Main text

View BVdb publication page

Discordant phenotypes in twins with infantile nystagmus.

Scientific Reports

Aamir, Abdullah A; Kuht, Helen J HJ; McLean, Rebecca J RJ; Maconachie, Gail D E GDE; Sheth, Viral V; Dawar, Basu B; Purohit, Ravi R; Sylvius, Nicolas N; Hisaund, Michael M; Zubcov-Iwantscheff, Alina A; Proudlock, Frank A FA; Gottlob, Irene I; Thomas, Mervyn G MG

Publication Date: 2021-02-02

Variant appearance in text: F2: 575C>A

PubMed Link: 33531592

Variant Present in the following documents:

• 41598_2021_Article_82368.pdf

View BVdb publication page