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

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 malformat...

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Bibliografiske detaljer
Udgivet i:Mol Genet Genomic Med
Main Authors: Traversa, Alice, Bernardo, Silvia, Paiardini, Alessandro, Giovannetti, Agnese, Marchionni, Enrica, Genovesi, Maria Luce, Guadagnolo, Daniele, Torres, Barbara, Paolacci, Stefano, Bernardini, Laura, Mazza, Tommaso, Carella, Massimo, Caputo, Viviana, Pizzuti, Antonio
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2019
Fag:
Clinical Report
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC6978243/
https://ncbi.nlm.nih.gov/pubmed/31756055
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1054
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