Tag: #GeneticScreening
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Genetic Studies in Assisted Reproduction Unveiling the Risk of Congenital Anomalies
Introduction The journey to parenthood through assisted reproductive technologies (ART) has transformed the lives of countless couples worldwide. However, concerns about the potential risk of congenital anomalies among children conceived through in vitro fertilization (IVF) continue to spark important scientific discussions. A recent observational study conducted by researchers from the National and Kapodistrian University of…
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Unraveling the Genetic Link: Recurrent Pancreatitis and CFTR Heterozygous Mutation
IntroductionRecurrent pancreatitis can pose significant diagnostic challenges, especially when traditional risk factors are absent. Recent findings highlight the role of genetic mutations in disease predisposition. One such mutation involves the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene, typically associated with cystic fibrosis. Emerging evidence suggests that heterozygous CFTR mutations may contribute to recurrent pancreatitis, as…
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