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Sy Ibrahima Cissé Birane Ndao Babacar Touré Mory Diouf Abdoul Aziz Sarr Mamadou Adama Ndiaye Ousmane Ndiaye Youssoupha Badiane Daouda Lalou Richard Janicot Serge Ndione Jacques-André 《Environmental science and pollution research international》2022,29(55):83365-83377
Environmental Science and Pollution Research - The Sahelian zone of Senegal experienced heat waves in the previous decades, such as 2013, 2016 and 2018 that were characterised by temperatures... 相似文献
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Noa Hourvitz Alina Kurolap Adi Mory Karina Krajden Haratz Dvora Kidron Gustavo Malinger Hagit Baris Feldman Yuval Yaron 《黑龙江环境通报》2023,43(10):1374-1377
A Jewish couple of mixed origin was referred for genetic counseling following termination of pregnancy at 18 weeks of gestation due to severe ventriculomegaly with aqueduct stenosis. Trio exome sequencing revealed a loss-of-function heterozygous variant in the SMARCC1 gene inherited from an unaffected mother. The SMARCC1 gene is associated with embryonic neurodevelopmental processes. Recent studies have linked perturbations of the gene with autosomal dominant congenital hydrocephalus, albeit with reduced penetrance. However, these studies were not referenced in the SMARCC1 OMIM record (*601732) and the gene was not considered, at the time, an OMIM morbid gene. Following our case and appeal, SMARCC1 is now considered a susceptibility gene for hydrocephalus. This allowed us to reclassify the variant as likely pathogenic and empowered the couple to make informed reproductive choices. 相似文献
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