Article
Exome sequencing in syndromic brain malformations identifies novel mutations in ACTB, and SLC9A6, and suggests BAZ1A as a new candidate gene.
Birth defects research - 17 Apr 2018
Weitensteiner Valerie, Zhang Rong, Bungenberg Julia, Marks Matthias, Gehlen Jan, Ralser Damian J, Hilger Alina C, Sharma Amit, Schumacher Johannes, Gembruch Ulrich, Merz Waltraut M, Becker Albert, Altmüller Janine, Thiele Holger, Herrmann Bernhard G, Odermatt Benjamin, Ludwig Michael, Reutter Heiko
Abstract excerpt
BACKGROUND: Syndromic brain malformations comprise a large group of anomalies with a birth prevalence of about 1 in 1,000 live births. Their etiological factors remain largely unknown. To identify causative mutations, we used whole-exome sequencing (WES) in aborted fetuses and children with syndromic brain malformations in which chromosomal microarray analysis was previously unremarkable. METHODS: WES analysis...
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