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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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6202811/
https://ncbi.nlm.nih.gov/pubmed/30359267
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-018-0409-z
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