Edited by Sunny Sun, Ping-Chiang Lyu, Chao A. Hsiung, Shaw-Jenq Tsai and Phoebe Chen.
Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia
Skeletal dysplasia (SD) is one of the most common inherited neonatal disorders worldwide, where the recurrent pathogenic mutations in the FGFR2, FGFR3, COL1A1, COL1A2 and COL2A1 genes are frequently reported in b...