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Heterotaxy Syndrome with Esophageal Atresia
The Journal of Pediatrics, 2015newborn presented with a prenatal diagnosis of hy-dramnios, dysplastic kidney, and congenital heart dis-ease and suspected heterotaxy syndrome. His 38-week gestation was complicated by maternal cholestasis. Anamniocentesiswasperformedandkaryotypewas46,XY.Thirdtrimesterserologieswerenegativeandthemotherwasimmuneto rubella and not immune to toxoplasmosis.
Filipa, Flor-de-Lima +6 more
openaire +2 more sources
Racial disparities in heterotaxy syndrome
Birth Defects Research Part A: Clinical and Molecular Teratology, 2015BackgroundHeterotaxy syndrome (HTX) is a constellation of defects including abnormal organ lateralization and often including congenital heart defects. HTX has widely divergent population‐based estimates of prevalence, racial and ethnic predominance, and mortality in current literature.MethodsThe objective of this study was to use a population‐based ...
Keila N, Lopez +4 more
openaire +2 more sources
Monoallelic Mutations in CC2D1A Suggest a Novel Role in Human Heterotaxy and Ciliary Dysfunction
Circulation Genomic and Precision Medicine, 2020Christopher C Y Mak +2 more
exaly

