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Variantes de novo en KDM2A causan un trastorno del neurodesarrollo sindrómico

Eric N Anderson1, Stephan Drukewitz2, Sukhleen Kour1

  • 1Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.

American journal of human genetics
|December 30, 2025
PubMed
Resumen

Las variantes de novo en KDM2A causan un trastorno del neurodesarrollo con discapacidad intelectual y rasgos faciales distintivos. Los estudios funcionales revelan mecanismos duales de pérdida de función y ganancia de función que contribuyen a la patología de la enfermedad.

Palabras clave:
KDM2Amaquinaria epigenéticatrastorno del neurodesarrollo

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