Article
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Molecular genetics and metabolism - 1 Mar 2024
Hammann Nicole, Lenz Dominic, Baric Ivo, Crushell Ellen, Vici Carlo Dionisi, Distelmaier Felix, Feillet Francois, Freisinger Peter, Hempel Maja, Khoreva Anna L, Laass Martin W, Lacassie Yves, Lainka Elke, Larson-Nath Catherine, Li Zhongdie, Lipiński Patryk, Lurz Eberhard, Mégarbané André, Nobre Susana, Olivieri Giorgia, Peters Bianca, Prontera Paolo, Schlieben Lea D, Seroogy Christine M, Sobacchi Cristina, Suzuki Shigeru, Tran Christel, Vockley Jerry, Wang Jian-She, Wagner Matias, Prokisch Holger, Garbade Sven F, Kölker Stefan, Hoffmann Georg F, Staufner Christian
Abstract excerpt
Biallelic pathogenic variants in neuroblastoma-amplified sequence (NBAS) cause a pleiotropic multisystem disorder. Three clinical subgroups have been defined correlating with the localisation of pathogenic variants in the NBAS gene: variants affecting the C-terminal region of NBAS result in SOPH syndrome (short stature, optic atrophy, Pelger-Huët anomaly), variants affecting the Sec 39 domain are associated with...
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