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Correspondence on "Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype" by Zanoni et al.
Cueto-González, Anna Ma; Fernández-Álvarez, Paula; Palafoll, Irene Valenzuela; Lasa-Aranzasti, Amaia; Vendrell Bayona, Teresa; Tizzano, Eduardo F.
Afiliação
  • Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Campus Hospital, Autonomous University of Barcelona, Barcelona, Spain; European Reference Network Cranio
  • Fernández-Álvarez P; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Campus Hospital, Autonomous University of Barcelona, Barcelona, Spain.
  • Palafoll IV; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Campus Hospital, Autonomous University of Barcelona, Barcelona, Spain; European Reference Network Cranio
  • Lasa-Aranzasti A; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Campus Hospital, Autonomous University of Barcelona, Barcelona, Spain.
  • Vendrell Bayona T; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Campus Hospital, Autonomous University of Barcelona, Barcelona, Spain.
  • Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Barcelona Campus Hospital, Barcelona, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Vall d'Hebron Barcelona Campus Hospital, Autonomous University of Barcelona, Barcelona, Spain; European Reference Network Cranio
Genet Med ; 24(3): 754-756, 2022 03.
Article em En | MEDLINE | ID: mdl-34906509
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Wolf-Hirschhorn Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndrome de Wolf-Hirschhorn Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article