Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RETand SLC20A2

Autor: Arteche-López, A., Álvarez-Mora, MI., Sánchez Calvin, MT., Lezana Rosales, JM., Palma Milla, C., Gómez Rodríguez, M. J., Gomez Manjón, I., Blázquez, A., Juarez Rufián, A., Ramos Gómez, P., Sierra Tomillo, O., Hidalgo Mayoral, I., Pérez de la Fuente, R., Posada Rodríguez, IJ., González Granado, LI., Martin, Miguel A., Quesada-Espinosa, JF., Moreno-García, M.

Publikováno v: European Journal of Human Genetics: EJHG; 20210101, Issue: Preprints p1-7, 7p

Learning disability in a son and premature ovarian failure as clinical pointers to identify a premutation on the X chromosome in a female with long-standing tremor.

Autor: López-Blanco R; Department of Neurology, Hospital Universitario 12 de Octubre, Av. Cordoba s/n, Madrid, Spain; Hospital 12 de Octubre Health Research Institute, Av. Cordoba s/n, Madrid, Spain. Electronic address: robretolb@gmail.com., Posada Rodríguez IJ; Department of Neurology, Hospital Universitario 12 de Octubre, Av. Cordoba s/n, Madrid, Spain; Movement Disorders Unit, Hospital Universitario 12 de Octubre, Av. Cordoba s/n, Madrid, Spain; Department of Medicine, Complutense University, Madrid, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain. Electronic address: ignaciojavier.posada@salud.madrid.org., Benito-León J; Department of Neurology, Hospital Universitario 12 de Octubre, Av. Cordoba s/n, Madrid, Spain; Department of Medicine, Complutense University, Madrid, Spain; Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas (CIBERNED), Spain. Electronic address: jbenitol67@gmail.com.

Publikováno v: Parkinsonism & related disorders [Parkinsonism Relat Disord] 2017 Sep; Vol. 42, pp. 107-108. Date of Electronic Publication: 2017 Jun 15.