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Monoallelic and biallelic variants in LEF1 are associated with a new syndrome combining ectodermal dysplasia and limb malformations caused by altered WNT signaling.
Dufour, William; Alawbathani, Salem; Jourdain, Anne-Sophie; Asif, Maria; Baujat, Geneviève; Becker, Christian; Budde, Birgit; Gallacher, Lyndon; Georgomanolis, Theodoros; Ghoumid, Jamal; Höhne, Wolfgang; Lyonnet, Stanislas; Ba-Saddik, Iman Ali; Manouvrier-Hanu, Sylvie; Motameny, Susanne; Noegel, Angelika A; Pais, Lynn; Vanlerberghe, Clémence; Wagle, Prerana; White, Susan M; Willems, Marjolaine; Nürnberg, Peter; Escande, Fabienne; Petit, Florence; Hussain, Muhammad Sajid.
Afiliação
  • Dufour W; University of Lille, EA7364 RADEME, Lille, France; CHU Lille, Clinique de génétique Guy Fontaine, Lille, France.
  • Alawbathani S; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany.
  • Jourdain AS; University of Lille, EA7364 RADEME, Lille, France; CHU Lille, Institut de Biochimie et Biologie Moléculaire, Lille, France.
  • Asif M; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and Universi
  • Baujat G; Hôpital Necker Enfants Malades, Service de génétique, CHU Paris, Paris, France.
  • Becker C; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Budde B; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Gallacher L; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Georgomanolis T; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Ghoumid J; University of Lille, EA7364 RADEME, Lille, France; CHU Lille, Clinique de génétique Guy Fontaine, Lille, France.
  • Höhne W; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Lyonnet S; Hôpital Necker Enfants Malades, Service de génétique, CHU Paris, Paris, France.
  • Ba-Saddik IA; Department of Pediatrics, Faculty of Medicine and Health Sciences, University of Aden, Aden, Yemen.
  • Manouvrier-Hanu S; University of Lille, EA7364 RADEME, Lille, France; CHU Lille, Clinique de génétique Guy Fontaine, Lille, France.
  • Motameny S; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Noegel AA; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
  • Vanlerberghe C; University of Lille, EA7364 RADEME, Lille, France; CHU Lille, Clinique de génétique Guy Fontaine, Lille, France.
  • Wagle P; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases, University of Cologne, Cologne, Germany.
  • White SM; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.
  • Willems M; Service de génétique, Hôpital Arnaud de Villeneuve, CHU de Montpellier, Montpellier, France.
  • Nürnberg P; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.
  • Escande F; University of Lille, EA7364 RADEME, Lille, France; CHU Lille, Institut de Biochimie et Biologie Moléculaire, Lille, France.
  • Petit F; University of Lille, EA7364 RADEME, Lille, France; CHU Lille, Clinique de génétique Guy Fontaine, Lille, France. Electronic address: florence.petit@univ-lille.fr.
  • Hussain MS; Cologne Center for Genomics, University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany; Center for Biochemistry, Medical Faculty, University of Cologne, Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, Faculty of Medicine and Universi
Genet Med ; 24(8): 1708-1721, 2022 08.
Article em En | MEDLINE | ID: mdl-35583550
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Fator 1 de Ligação ao Facilitador Linfoide / Via de Sinalização Wnt 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 País de afiliação: França
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Displasia Ectodérmica / Fator 1 de Ligação ao Facilitador Linfoide / Via de Sinalização Wnt 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 País de afiliação: França