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Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
Ghoumid, Jamal; Stichelbout, Morgane; Jourdain, Anne-Sophie; Frenois, Frederic; Lejeune-Dumoulin, Sophie; Alex-Cordier, Marie-Pierre; Lebrun, Marine; Guerreschi, Pierre; Duquennoy-Martinot, Veronique; Vinchon, Matthieu; Ferri, Joel; Jung, Matthieu; Vicaire, Serge; Vanlerberghe, Clemence; Escande, Fabienne; Petit, Florence; Manouvrier-Hanu, Sylvie.
Afiliação
  • Ghoumid J; Department of Medical Genetics, Lille University Hospital, CHU Lille, Lille, France.
  • Stichelbout M; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France.
  • Jourdain AS; Lille University School of Medicine, Lille 2 University, Lille, France.
  • Frenois F; Department of Medical Genetics, Lille University Hospital, CHU Lille, Lille, France.
  • Lejeune-Dumoulin S; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France.
  • Alex-Cordier MP; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France.
  • Lebrun M; Department of Biochemistry and Molecular Biology, Lille University Hospital, CHU Lille, Lille, France.
  • Guerreschi P; Department of Medical Genetics, Lille University Hospital, CHU Lille, Lille, France.
  • Duquennoy-Martinot V; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France.
  • Vinchon M; Department of Medical Genetics, Lille University Hospital, CHU Lille, Lille, France.
  • Ferri J; Department of Medical Genetics, Hospices Civils de Lyon, Hôpital Femme-Mère-Enfant, and Eastern Biology and Pathology Centre, Bron, France.
  • Jung M; Department of Medical Genetics, St Etienne University Hospital, Saint Priez en Jarez, France.
  • Vicaire S; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France.
  • Vanlerberghe C; Lille University School of Medicine, Lille 2 University, Lille, France.
  • Escande F; Department of Plastic, Reconstructive and Aesthetic Surgery, Lille University Hospital, CHU Lille, Lille, France.
  • Petit F; EA7364 RADEME (Research Team on Rare Developmental and Metabolic Diseases), Lille 2 University, Lille, France.
  • Manouvrier-Hanu S; Lille University School of Medicine, Lille 2 University, Lille, France.
Genet Med ; 19(9): 1013-1021, 2017 09.
Article em En | MEDLINE | ID: mdl-28301459
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Dentárias / Caderinas / Fenda Labial / Fissura Palatina / Predisposição Genética para Doença / Ectrópio / Cateninas / Estudos de Associação Genética / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos
Texto completo
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Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Anormalidades Dentárias / Caderinas / Fenda Labial / Fissura Palatina / Predisposição Genética para Doença / Ectrópio / Cateninas / Estudos de Associação Genética / Mutação Tipo de estudo: Prognostic_studies Limite: Female / Humans / Male Idioma: En Revista: Genet Med Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França País de publicação: Estados Unidos