Novel Compound Heterozygous Mutations in CRTAP Cause Rare Autosomal Recessive Osteogenesis Imperfecta

por Tang, Yen-An, Wang, Lin-Yen, Chang, Chiao-May, Lee, I-Wen, Tsai, Wen-Hui, Sun, H. Sunny
Publicado 2020

Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia

por Wang, Ching-Yuan, Tang, Yen-An, Lee, I-Wen, Chang, Fong-Ming, Chien, Chun-Wei, Pan, Hsien-An, Sun, H. Sunny
Publicado 2021