Next-generation sequencing reanalysis identifies Coffin-Siris syndrome with an initial diagnosis of hypertrophic cardiomyopathy
Rai-Hseng Hsu,
Ni-Chung Lee,
Ming-Tai Lin,
Ting-An Yen,
Yin-Hsiu Chien,
Wuh-Liang Hwu
Affiliations
Rai-Hseng Hsu
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan
Ni-Chung Lee
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan
Ming-Tai Lin
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan
Ting-An Yen
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan
Yin-Hsiu Chien
Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan
Wuh-Liang Hwu
Corresponding author. Department of Medical Genetics and Pediatrics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan.; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan; Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan