Prenatally diagnosed TTN mutation with repeated bilateral club foot by whole exome sequencing - Shim, So Hyun; Kim, Ji Youn; Sung, Se Ra; Park, Ji Eun; Shin, Yun Jeong; Shim, Sung Han; Cha, Dong Hyun (Biochip journal, 2017)
Keywords: Atrophy; Biomedical Engineering and Bioengineering; Biotechnology; Chemistry; Chemistry and Materials Science; Diagnosis; Disease; Disorders; Genes; Genetic screening; Genotype & phenotype; Hybridization; Mutation; Next-generation sequencing; Original Article; Phenotypes; Prenatal diagnosis; Ultrasonic imaging; 생물공학; Trio analysis; Titinopathy; Next-generation sequencing (NGS); Whole exome sequencing (WES); TTN