Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by wh...
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
About this item
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Author / Creator
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 and Chung, Brian H Y
Publisher
England: BioMed Central
Journal title
Language
English
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Publication information
Publisher
England: BioMed Central
Subjects
More information
Scope and Contents
Contents
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) detected on prenatal ultrasound.
Thirty-three families with feta...
Alternative Titles
Full title
Identifying the genetic causes for prenatally diagnosed structural congenital anomalies (SCAs) by whole-exome sequencing (WES)
Authors, Artists and Contributors
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Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_282d5793434f48b0ae2433ea3829b919
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_282d5793434f48b0ae2433ea3829b919
Other Identifiers
ISSN
1755-8794
E-ISSN
1755-8794
DOI
10.1186/s12920-018-0409-z
