作者：
Marta,Codina-Solà [1]
;
Laura,Trujillano [2]
;
Anna,Abulí [3]
;
Eulàlia,Rovira-Moreno [3]
;
Patricia,Muñoz-Cabello [4]
;
Berta,Campos [4]
;
Paula,Fernández-Álvarez [3]
;
Dolors,Palau [5]
;
Estela,Carrasco [6]
;
Irene,Valenzuela [3]
;
Anna Maria,Cueto-González [4]
;
Amaia,Lasa-Aranzasti [3]
;
Javier,Limeres [7]
;
Jordi,Leno-Colorado [4]
;
Mar,Costa-Roger [4]
;
Alejandro,Moles-Fernández [4]
;
Judith,Balmaña [6]
;
Orland,Díez [8]
;
Ivon,Cuscó [9]
;
Elena,Garcia-Arumí [10]
;
Eduardo Fidel,Tizzano [3]
作者单位：
Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain. marta.codina@vallhebron.cat.;Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain. marta.codina@vallhebron.cat.;European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Barcelona, Spain. marta.codina@vallhebron.cat.
[1]
Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.;Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.;Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.
[2]
Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.;Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.;European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Barcelona, Spain.
[3]
Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.;Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.
[4]
Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.
[5]
Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, Hospital Universitari Vall d'Hebron, Barcelona, Spain.;Medical Oncology Department, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.
[6]
European Reference Networks for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Barcelona, Spain.;Unidad de Cardiopatías Familiares, Servicio de Cardiología, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.;Centre for Biomedical Network Research on Cardiovascular Diseases (CIBERCV), Madrid, Spain.
[7]
Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.;Hereditary Cancer Genetics Group, Vall d'Hebron Institute of Oncology (VHIO), Vall d'Hebron Barcelona Hospital Campus, Hospital Universitari Vall d'Hebron, Barcelona, Spain.
[8]
Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.;Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.;European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Barcelona, Spain.;Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.;Department of Genetics, Hospital Sant Pau, Barcelona, Spain.
[9]
Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.;Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.;European Reference Network on Rare Congenital Malformations and Rare Intellectual Disability ERN-ITHACA, Barcelona, Spain.;Instituto de Salud Carlos III, Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain.;Research Group on Neuromuscular and Mitochondrial Disorders, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Barcelona Hospital Campus, Vall d'Hebron Hospital Universitari, Barcelona, Spain.
[10]
DOI
10.1038/s41431-022-01240-5
PMID
36446894
发布时间
2024-09-12
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