Article
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2020
Staufner Christian, Peters Bianca, Wagner Matias, Alameer Seham, Barić Ivo, Broué Pierre, Bulut Derya, Church Joseph A, Crushell Ellen, Dalgıç Buket, Das Anibh M, Dick Anke, Dikow Nicola, Dionisi-Vici Carlo, Distelmaier Felix, Bozbulut Neslihan Ekşi, Feillet François, Gonzales Emmanuel, Hadzic Nedim, Hauck Fabian, Hegarty Robert, Hempel Maja, Herget Theresia, Klein Christoph, Konstantopoulou Vassiliki, Kopajtich Robert, Kuster Alice, Laass Martin W, Lainka Elke, Larson-Nath Catherine, Leibner Alexander, Lurz Eberhard, Mayr Johannes A, McKiernan Patrick, Mention Karine, Moog Ute, Mungan Neslihan Onenli, Riedhammer Korbinian M, Santer René, Palafoll Irene Valenzuela, Vockley Jerry, Westphal Dominik S, Wiedemann Arnaud, Wortmann Saskia B, Diwan Gaurav D, Russell Robert B, Prokisch Holger, Garbade Sven F, Kölker Stefan, Hoffmann Georg F, Lenz Dominic
Abstract excerpt
PURPOSE: Pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause an autosomal recessive disorder with a wide range of symptoms affecting liver, skeletal system, and brain, among others. There is a continuously growing number of patients but a lack of systematic and quantitative analysis. METHODS: Individuals with biallelic variants in NBAS were recruited within an international, multicenter study,...
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