A novel de novo variant in CASKcauses a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

Autor: Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Olson, Alexandra N., Sánchez-Calvin, María Teresa, de Aragón, Ana Martínez, de Las Heras, Rogelio Simón, Dinman, Jonathan D., de Vries, Bert B. A., Nabais Sá, Maria João, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco

Publikováno v: Journal of Human Genetics; August 2023, Vol. 68 Issue: 8 p543-550, 8p

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Correction: A novel de novo variant in CASKcauses a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2

Autor: Rodríguez-García, María Elena, Cotrina-Vinagre, Francisco Javier, Olson, Alexandra N., Sánchez-Calvin, María Teresa, de Aragón, Ana Martínez, de Las Heras, Rogelio Simón, Dinman, Jonathan D., de Vries, Bert B. A., Nabais Sá, Maria João, Quijada-Fraile, Pilar, Martínez-Azorín, Francisco

Publikováno v: Journal of Human Genetics; August 2023, Vol. 68 Issue: 8 p577-577, 1p

Deletion of the 5'exons of COL4A6 is not needed for the development of diffuse leiomyomatosis in patients with Alport syndrome.

Autor: Nabais Sá, Maria João, Fieremans, Nathalie, de Brouwer, Arjan P. M., Sousa, Rita, Costa, Fernando Teixeira E., Brito, Maria José, Carvalho, Fernanda, Rodrigues, Márcia, de Sousa, Francisco Teixeira, Felgueiras, Joana, Neves, Fernando, Carvalho, Adelino, Ramos, Umbelina, Vizcaíno, José Ramón, Alves, Susana, Carvalho, Filipa, Froyen, Guy, Oliveira, João Paulo

Publikováno v: Journal of Medical Genetics; Nov2013, Vol. 50 Issue 11, p745-753, 9p

A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2.

Autor: Rodríguez-García ME; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i + 12), E-28041, Madrid, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, E-28041, Madrid, Spain., Cotrina-Vinagre FJ; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i + 12), E-28041, Madrid, Spain., Olson AN; Department of Chemistry and Biochemistry, University of Maryland, College Park, MD, 20742, USA., Sánchez-Calvin MT; Servicio de Genética, Hospital 12 de Octubre, E-28041, Madrid, Spain., de Aragón AM; Servicio de Radiología, Hospital 12 de Octubre, E-28041, Madrid, Spain., de Las Heras RS; Unidad de Neuropediatría, Hospital 12 de Octubre, Madrid, E-28041, Spain., Dinman JD; Department of Cell Biology and Molecular Genetics, University of Maryland, College Park, MD, 20742, USA., de Vries BBA; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, 6525 GA, Nijmegen, The Netherlands., Nabais Sá MJ; Centre for Predictive and Preventive Genetics (CGPP) and UnIGENe, Institute for Molecular and Cell Biology (IBMC), i3S-Instituto de Investigação e Inovação em Saúde, Universidade do Porto, Porto, Portugal., Quijada-Fraile P; Unidad Pediátrica de Enfermedades Raras, Enfermedades Mitocondriales y Metabólicas Hereditarias, Hospital 12 de Octubre, E-28041, Madrid, Spain., Martínez-Azorín F; Grupo de Enfermedades Raras, Mitocondriales y Neuromusculares (ERMN). Instituto de Investigación Hospital 12 de Octubre (i + 12), E-28041, Madrid, Spain. fmartinez@h12o.es.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), U723, E-28041, Madrid, Spain. fmartinez@h12o.es.

Publikováno v: Journal of human genetics [J Hum Genet] 2023 Aug; Vol. 68 (8), pp. 543-550. Date of Electronic Publication: 2023 Apr 18.