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

• Egile Nagusiak: Ching-Yuan Wang (Egilea), Yen-An Tang (Egilea), I-Wen Lee (Egilea), Fong-Ming Chang (Egilea), Chun-Wei Chien (Egilea), Hsien-An Pan (Egilea), H. Sunny Sun (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2021-11-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: Connect to this object online.

Abstract Background 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 both non-lethal and lethal SD. The traditional prenatal diagnosis of...