Article

<i>NFIX</i> missense variants that disrupt the β-hairpin loop result in a severe form of Malan syndrome in adolescence with rapidly evolving scoliosis and muscle wasting

2026-07-19

Abstract excerpt

<h4>Purpose</h4> Pathogenic variants in NFIX cause Marshall-Smith syndrome and Malan syndrome (MALNS). We identified a severe subtype of MALNS characterized by adolescent-onset musculoskeletal deterioration and investigated functional consequences of underlying variants. <h4>Methods</h4> Clinical data were collected from seven individuals with pathogenic NFIX variants. Wild-type and mutated recombinant NFIX D...

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Literature Corpus work: fb6b9bdc-ea16-5883-8560-b6060066db63
DOI: 10.64898/2026.07.16.26357549

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