Article
FOXG1 syndrome: genotype-phenotype association in 83 patients with FOXG1 variants.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jan 2018
Mitter Diana, Pringsheim Milka, Kaulisch Marc, Plümacher Kim Sarah, Schröder Simone, Warthemann Rita, Abou Jamra Rami, Baethmann Martina, Bast Thomas, Büttel Hans-Martin, Cohen Julie S, Conover Elizabeth, Courage Carolina, Eger Angelika, Fatemi Ali, Grebe Theresa A, Hauser Natalie S, Heinritz Wolfram, Helbig Katherine L, Heruth Marion, Huhle Dagmar, Höft Karen, Karch Stephanie, Kluger Gerhard, Korenke G Christoph, Lemke Johannes R, Lutz Richard E, Patzer Steffi, Prehl Isabelle, Hoertnagel Konstanze, Ramsey Keri, Rating Tina, Rieß Angelika, Rohena Luis, Schimmel Mareike, Westman Rachel, Zech Frank-Martin, Zoll Barbara, Malzahn Dörthe, Zirn Birgit, Brockmann Knut
Abstract excerpt
PurposeThe study aimed at widening the clinical and genetic spectrum and assessing genotype-phenotype associations in FOXG1 syndrome due to FOXG1 variants.MethodsWe compiled 30 new and 53 reported patients with a heterozygous pathogenic or likely pathogenic variant in FOXG1. We grouped patients according to type and location of the variant. Statistical analysis of molecular and clinical data was performed using...
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