Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy–Walker malformation

Abstract Background Posterior fossa malformations are among the most diagnosed central nervous system (CNS) anomalies detected by ultrasound (US) in prenatal age. We identified the pathogenic gene mutation in a male fetus of 17 weeks of gestation with US suspicion of familial Dandy–Walker spectrum m...

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出版年:	Molecular Genetics & Genomic Medicine
主要な著者:	Alice Traversa, Silvia Bernardo, Alessandro Paiardini, Agnese Giovannetti, Enrica Marchionni, Maria Luce Genovesi, Daniele Guadagnolo, Barbara Torres, Stefano Paolacci, Laura Bernardini, Tommaso Mazza, Massimo Carella, Viviana Caputo, Antonio Pizzuti
フォーマット:	論文
言語:	英語
出版事項:	Wiley 2020-01-01
主題:	Dandy–Walker malformation fetal imaging FKTN muscular dystrophy‐dystroglycanopathy type A4 prenatal diagnosis whole exome sequencing
オンライン･アクセス:	https://doi.org/10.1002/mgg3.1054