Nelly Sabbaghian1, Maria C. Digilio2, Gillian M. Blue3,4, Timothée Revil5, David S. Winlaw3,4, William D. Foulkes1,6
Congenital Heart Disease, Vol.13, No.3, pp. 401-406, 2018, DOI:10.1111/chd.12578
Abstract Objective: We previously identified a pathogenic germline DICER1 variant in a child with transposition of the great arteries who was a member of a family with DICER1 syndrome. In view of a
report linking DICER1 knockout in murine cardiomyocytes to cardiac outflow defects, we investigated the involvement of DICER1 in transposition of the great arteries.
Design: We used Fluidigm access array followed by next generation sequencing to screen for variants in the coding exons, their exon/intron boundaries and the 30 untranslated region of DICER1
in patient DNA.
Cases: Germline DNA was collected from 129 patients with either sporadic or familial… More >
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