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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Gepubliceerd in:BMC Med Genomics
Hoofdauteurs: 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
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: BioMed Central 2018
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Research Article
Online toegang: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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