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Clinical delineation of a subtype of frontonasal dysplasia with creased nasal ridge and upper limb anomalies: Report of six unrelated patients.
Lehalle, Daphné; Altunoglu, Umut; Bruel, Ange-Line; Arnaud, Eric; Blanchet, Patricia; Choi, Jong-Woo; Désir, Julie; Kiliç, Esra; Lederer, Damien; Pinson, Lucile; Thauvin-Robinet, Christel; Singer, Amihood; Thevenon, Julien; Callier, Patrick; Kayserili, Hulya; Faivre, Laurence.
Afiliação
  • Lehalle D; Equipe GAD, INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France.
  • Altunoglu U; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.
  • Bruel AL; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
  • Arnaud E; Equipe GAD, INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France.
  • Blanchet P; Service de Neurochirurgie, Hôpital Necker, Paris, France.
  • Choi JW; Genetic Departement for Rare Disease and Personalised Medicine, Clinical Division, CHU Montpellier, Montpellier, France.
  • Désir J; Department of Plastic & Reconstructive Surgery, College of Medicine, University of Ulsan, Seoul Asan Medical Center, Seoul, South Korea.
  • Kiliç E; Center for Human Genetics, Institut de Pathologie et Génétique (I.P.G.), Gosselies, Belgium.
  • Lederer D; Pediatric Genetics, Pediatric Hematology Oncology Research & Training Hospital, Ankara, Turkey.
  • Pinson L; Center for Human Genetics, Institut de Pathologie et Génétique (I.P.G.), Gosselies, Belgium.
  • Thauvin-Robinet C; Genetic Departement for Rare Disease and Personalised Medicine, Clinical Division, CHU Montpellier, Montpellier, France.
  • Singer A; Equipe GAD, INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France.
  • Thevenon J; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.
  • Callier P; Pediatrics and Medical Genetics, Barzilai Medical Center, Ashkelon, Israel.
  • Kayserili H; Equipe GAD, INSERM LNC UMR 1231, Faculté de Médecine, Université de Bourgogne Franche-Comté, Dijon, France.
  • Faivre L; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'Interrégion Est, Centre Hospitalier Universitaire Dijon, Dijon, France.
Am J Med Genet A ; 173(12): 3136-3142, 2017 Dec.
Article em En | MEDLINE | ID: mdl-29136349
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Atresia das Cóanas / Anormalidades Craniofaciais / Encefalocele / Face / Agenesia do Corpo Caloso / Cardiopatias Congênitas Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França
Texto completo
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XML
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Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Múltiplas / Atresia das Cóanas / Anormalidades Craniofaciais / Encefalocele / Face / Agenesia do Corpo Caloso / Cardiopatias Congênitas Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Female / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2017 Tipo de documento: Article País de afiliação: França