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

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 SD using...

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Autores principales: Wang, Ching-Yuan, Tang, Yen-An, Lee, I-Wen, Chang, Fong-Ming, Chien, Chun-Wei, Pan, Hsien-An, Sun, H. Sunny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8600686/
https://www.ncbi.nlm.nih.gov/pubmed/34789231
http://dx.doi.org/10.1186/s12920-021-01063-1

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