Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)

BACKGROUND: Whole-exome sequencing (WES) has become an invaluable tool for genetic diagnosis in paediatrics. However, it has not been widely adopted in the prenatal setting. This study evaluated the use of WES in prenatal genetic diagnosis in fetuses with structural congenital anomalies (SCAs) detec...

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Detalles Bibliográficos
Autores principales: Leung, Gordon K C, Mak, Christopher C Y, Fung, Jasmine L F, Wong, Wilfred H S, Tsang, Mandy H Y, Yu, Mullin H C, Pei, Steven L C, Yeung, K S, Mok, Gary T K, Lee, C P, Hui, Amelia P W, Tang, Mary H Y, Chan, Kelvin Y K, Liu, Anthony P Y, Yang, Wanling, Sham, P C, Kan, Anita S Y, Chung, Brian H Y
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202811/
https://www.ncbi.nlm.nih.gov/pubmed/30359267
http://dx.doi.org/10.1186/s12920-018-0409-z

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6202811/
https://www.ncbi.nlm.nih.gov/pubmed/30359267
http://dx.doi.org/10.1186/s12920-018-0409-z

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