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De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females.
Li, Dong; Strong, Alanna; Shen, Kaitlyn M; Cassiman, David; Van Dyck, Maria; Linhares, Natalia Duarte; Valadares, Eugenia Ribeiro; Wang, Tiancheng; Pena, Sergio D J; Jaeken, Jaak; Vergano, Samantha; Zackai, Elaine; Hing, Anne; Chow, Penny; Ganguly, Arupa; Scholz, Tasja; Bierhals, Tatjana; Philipp, Deindl; Hakonarson, Hakon; Bhoj, Elizabeth.
Afiliação
  • Li D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Strong A; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Shen KM; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Cassiman D; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Van Dyck M; University Hospitals and University of Leuven, Metabolic Center, Leuven, Belgium.
  • Linhares ND; University Hospitals and University of Leuven, Pediatric Nephrology, Leuven, Belgium.
  • Valadares ER; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
  • Wang T; CENTRARE-Centro de Referência em fendas orofaciais, Fundação Benjamin Guimarães-Hospital da Baleia, Belo Horizonte, Brazil.
  • Pena SDJ; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Jaeken J; Departamento de Bioquímica e Imunologia, Instituto de Ciências Biológicas, Universidade Federal de Minas Gerais, Belo Horizonte, Brazil.
  • Vergano S; Laboratório Gene-Núcleo de Genética Médica, Belo Horizonte, Brazil.
  • Zackai E; University Hospitals and University of Leuven, Metabolic Center, Leuven, Belgium.
  • Hing A; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughters, Norfolk, VA, USA.
  • Chow P; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA, USA.
  • Ganguly A; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Scholz T; Division of Genetics, Seattle Children's Hospital, Seattle, WA, USA.
  • Bierhals T; Division of Genetics, Seattle Children's Hospital, Seattle, WA, USA.
  • Philipp D; Department of Genetics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.
  • Hakonarson H; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
  • Bhoj E; Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
Genet Med ; 23(4): 637-644, 2021 04.
Article em En | MEDLINE | ID: mdl-33244166
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Deficiência Intelectual Ligada ao Cromossomo X / Complexo Mediador / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Retinose Pigmentar / Deficiência Intelectual Ligada ao Cromossomo X / Complexo Mediador / Deficiência Intelectual Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Adult / Female / Humans Idioma: En Ano de publicação: 2021 Tipo de documento: Article