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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Bibliographische Detailangaben
Veröffentlicht in:BMC Med Genomics
Hauptverfasser: 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
Format: Artigo
Sprache:Inglês
Veröffentlicht: BioMed Central 2018
Schlagworte:
Research Article
Online Zugang: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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