The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

Autor: Vidal, S., Brandi, N., Pacheco, P., Gerotina, E., Blasco, L., Trotta, J.-R., Derdak, S., Del Mar O'Callaghan, M., Garcia-Cazorla, À., Pineda, M., Armstrong, J., Aguirre, F.J., Aleu, M., Alonso, X., Alsius, M., Inmaculada Amorós, M., Antiñolo, G., Aquino, L., Arellano, C., Arriola, G., Arteaga, R., Baena, N., Barcos, M., Belzunces, N., Boronat, S., Camacho, T., Campistol, J., Del Campo, M., Campo, A., Cancho, R., Candau, R., Canós, I., Carrascosa, M.D.C., Carratalá-Marco, F., Casano, J., Castro, P., Cobo, A., Colomer, J., Conejo, D., Corrales, M.J., Cortés, R., Cruz, G., Csányi, G., De Santos, M.T., De Toledo, M., Toro, M.D., Domingo, R., Duat, A., Duque, R., Esparza, A.M., Fernández, R., Fons, M.C., Fontalba, A., Galán, E., Gallano, P., Gamundi, M.J., García, P.L., García, M.D.M., García-Barcina, M., Garcia-Catalan, M.J., García-Miñaur, S., Garcia-Peñas, J.J., García-Silva, M.T., Gassio, R., Geán, E., Gil, B., Gökben, S., Gonzalez, L., Gonzalez, V., Gonzalez, J., González, G., Guillén, E., Guitart, M., Guitet, M., Gutierrez, J.M., Gutiérrez, E., Herranz, J.L., Iglesias, G., Karacic, I., Lahoz, C.H., Lao, J.I., Lapunzina, P., Lautre-Ecenarro, M.J., Lluch, M.D., López, L., López-Ariztegui, A., Macaya, A., Marín, R., Marquez, C.M.L., Martín, E., Martínez, B., Martínez-Salcedo, E., Mas, M.J., Mateo, G., Mendez, P., Jimenez, A.M., Moreno, S., Mulas, F., Narbona, J., Nascimento, A., Nieto, M., Nunes, T.F., Núñez, N., Obón, M., Onsurbe, I., Ortez, C.I., Orts, E., Martinez, F., Parrilla, R., Pascual, S.I., Patiño, A., Pérez-Poyato, M., Pérez-Dueñas, B., Póo, P., Puche, E., Ramos, F., Raspall, M., Roche, A., Roldan, S., Rosell, J., Ruiz, C., Ruiz-Falcó, M.L., Russi, M.E., Samarra, J., Antonio, V.S., Sanchez, I., Sanmartin, X., Sans, A., Santacana, A., Scholl-Bürgi, S., Serrano, N., Serrano, M., Martin-Tamayo, P., Tendero, A., Torrents, J., Tortosa, D., Triviño, E., Troncoso, L., Turrón, E., Vázquez, P., Vázquez, C., Velázquez, R., Ventura, C., Verdú, A., Vernet, A., Vila, M.T., Villar, C.

Publikováno v: Zaguán. Repositorio Digital de la Universidad de Zaragoza
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Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::823e40013b7a39aa038e93f34fc8434d
http://zaguan.unizar.es/record/63161

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Publikováno v: Daily Mail. 9/1/2022, p43. 1p.

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Publikováno v: Daily Mail. 9/1/2022, p29. 1p.

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