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John Hilton Edwards first described the symptoms of the genetic disorder known as Trisomy 18 - one of the most common forms of trisomy, which occurs…
TrisomyFetusCongenital DisordersHuman DevelopmentThe Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) gene was identified in 1989 by geneticist Lap-Chee Tsui and his research team as the…
Cystic FibrosisReproductionCongenital DisordersHuman DevelopmentIn 1914 Albert Niemann, a German pediatrician who primarily studied infant metabolism, published a description of an Ashkenazi Jewish infant with…
Niemann-Pick DiseasesHuman DevelopmentCongenital DisordersIn the US, one in 1000 births is affected by neural tube defects (NTD). A neural tube defect is a birth defect involving the malformation of body…
Neural Tube DefectsReproductionCongenital DisordersHuman DevelopmentTwin-to-Twin Transfusion Syndrome (TTTS) is a rare placental disease that can occur at any time during pregnancy involving identical twins. TTTS…
Fetofetal TransfusionReproductionFetusCongenital DisordersHuman Development