Prenatal characterization of a novel inverted SMAD2 duplication by mate-pair sequencing in a fetus with dextrocardia
Authorea (Authorea)(2020)
摘要
A fetus harboring a duplication of SMAD2 exons 1-6 presented with dextrocardia and pulmonary hypoplasia. Mate-pair sequencing revealed the duplication to be in inverted tandem orientation to the wild-type SMAD2 allele, disrupting its sequence and decreasing expression. These observations suggest SMAD2 to be responsible for the fetal dextrocardia.
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关键词
smad2 duplication,prenatal characterization,fetus,mate-pair
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