E-poster No. / Submission No.
D022 / aamls20250116
Category
(4) Molecular diagnosis
Title
Application of Whole-Exome Sequencing and ARMS-qPCR in Preimplantation Genetic Diagnosis for Perlman Syndrome: A Case Study
Author
Shun Ping Chang1, Yu Cih Chen1, Wen Yin Lin1, Mei Hui. Lee1, Dong Jay Lee1, Adeline Yan1, Duo Si. Lan1, Gwo Chin Ma1, Ting Yu Chang1, Ming Chen1,2,3,4,5,6
Affiliation
1.Department of Genomic Medicine and Department of Medical Research, Changhua Christian Hospital, Changhua, Taiwan
2.Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan
3.Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan
4.Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
5.Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan
6.Department of Post-Baccalaureate Medicine, National Chung Hsing University, Taichung, Taiwan
2.Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua, Taiwan
3.Department of Obstetrics and Gynecology, College of Medicine, National Taiwan University, Taipei, Taiwan
4.Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.
5.Department of Medical Sciences, National Tsing Hua University, Hsinchu, Taiwan
6.Department of Post-Baccalaureate Medicine, National Chung Hsing University, Taichung, Taiwan
