Movement disorders : official journal of the Movement Disorder Society
International Registry of NKX2-1-Related Disorders: Clinical, Genetic, and Imaging Perspectives.
Laia Nou-Fontanet, Claudia Ravelli, Lydie Burglen, Sol Balsells Mejia, Angel Valls-Villalba, Elies Roman Schiffels, Alice Innocenti, Beatriz Villafuerte, Ainara Salazar-Villacorta, Vicente Quiroz, Andrea Sariego Jamardo, Giulia Bonato, Asun Díaz-Gomez, Alexandra Afenjar, Catheline Vilain
Published: 202610.1002/mds.70187
Abstract
BACKGROUND: NKX2-1-related disorders result from heterozygous variants in NKX2-1, a gene crucial for brain, lung, and thyroid development. Although movement disorders, hypothyroidism, and neonatal respiratory distress are recognized, the full phenoty…
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