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

07:00 EST 22nd November 2019 | BioPortfolio

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

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 malformation, using Next Generation Sequencing approach in prenatal diagnosis.


Journal Details

This article was published in the following journal.

Name: Molecular genetics & genomic medicine
ISSN: 2324-9269
Pages: e1054


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Techniques to determine the complete complement of sequences of all EXONS of an organism or individual.

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That part of the genome that corresponds to the complete complement of EXONS of an organism or cell.

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