Paroxysmal Cranial Dyskinesia and Nail‐Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

BACKGROUND: In a Danish family, multiple individuals in five generations present with early‐onset paroxysmal cranial dyskinesia, musculoskeletal abnormalities, and kidney dysfunction. OBJECTIVE: To demonstrate linkage and to identify the underlying genetic cause of disease. METHODS: Genome‐wide sing...

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Detalles Bibliográficos
Autores principales: Bech, Sara, Løkkegaard, Annemette, Nielsen, Troels T., Nørremølle, Anne, Grønborg, Sabine, Hasholt, Lis, Steffensen, Gudrun K., Graehn, Gabor, Olesen, Jess H., Tommerup, Niels, Mang, Yuan, Bak, Mads, Nielsen, Jørgen E., Eiberg, Hans, Hjermind, Lena E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Regular Issue Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8151874/
https://www.ncbi.nlm.nih.gov/pubmed/32949189
http://dx.doi.org/10.1002/mds.28244

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