Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients
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Published:2020-03
Issue:3
Volume:22
Page:610-621
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ISSN:1098-3600
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Container-title:Genetics in Medicine
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language:en
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Short-container-title:Genetics in Medicine
Author:
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 DominicORCID
Funder
Dietmar Hopp Stiftung Wellcome Trust
Subject
Genetics (clinical)
Reference60 articles.
1. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina;Segarra;Am J Hum Genet A,2015
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