NKX2-1 Aşağı Akım Regülatör Yapısal Varyantları Benign Hereditary Korea'lı Hastalarda Moleküler Tanıların Önemli Bir Oranını Açıklar.

NKX2-1 Downstream Regulatory Structural Variants Explain a Substantial Proportion of Molecular Diagnoses in Patients With Benign Hereditary Chorea.

Wijngaard R, Dougherty-de Miguel L, Demidov G, Astuti G, Lasa-Aranzasti A, Cueto-González A, Correa-Vela M, Lázaro-Hernández C, Haaxma CA, van Karnebeek CDM, Gómez-Andrés D, Iglesias-Serrano I, van de Kamp JM, Schieving J, Trujillano L, Engelen M, Muñoz-Cabello B, Maas RPPWM, Gardeitchik T, Gonzalez V, de Vreugd A, Pérez-Sanchez C, Lloveras E, Kamsteeg EJ, Pennings M, Rey-Viñets N, Sánchez J, van Beek R, Moreno-Galdó A, Vissers LELM, Neveling K, Marcé-Grau A, Oud MM, Pérez-Dueñas B.

Mov Disord · 2026-07-16

DOI: 10.1002/mds.70432PMID: 42464514