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Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome.
Kievit, Anneke; Tessadori, Federico; Douben, Hannie; Jordens, Ingrid; Maurice, Madelon; Hoogeboom, Jeannette; Hennekam, Raoul; Nampoothiri, Sheela; Kayserili, Hülya; Castori, Marco; Whiteford, Margo; Motter, Connie; Melver, Catherine; Cunningham, Michael; Hing, Anne; Kokitsu-Nakata, Nancy M; Vendramini-Pittoli, Siulan; Richieri-Costa, Antonio; Baas, Annette F; Breugem, Corstiaan C; Duran, Karen; Massink, Maarten; Derksen, Patrick W B; van IJcken, Wilfred F J; van Unen, Leontine; Santos-Simarro, Fernando; Lapunzina, Pablo; Gil-da Silva Lopes, Vera L; Lustosa-Mendes, Elaine; Krall, Max; Slavotinek, Anne; Martinez-Glez, Victor; Bakkers, Jeroen; van Gassen, Koen L I; de Klein, Annelies; van den Boogaard, Marie-José H; van Haaften, Gijs.
Afiliação
  • Kievit A; Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, 3015CN, The Netherlands. j.a.kievit@erasmusmc.nl.
  • Tessadori F; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands.
  • Douben H; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584CT, The Netherlands.
  • Jordens I; Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, 3015CN, The Netherlands.
  • Maurice M; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands.
  • Hoogeboom J; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands.
  • Hennekam R; Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, 3015CN, The Netherlands.
  • Nampoothiri S; Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, 1105AZ, The Netherlands.
  • Kayserili H; Department of Pediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Kerala, 682041, India.
  • Castori M; Department of Medical Genetics, Koç University School of Medicine, Istanbul, 34450, Turkey.
  • Whiteford M; Division of Medical Genetics, IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, 71013, Italy.
  • Motter C; Department of Clinical Genetics, Queen Elizabeth University Hospital, Glasgow, G51 4TF, UK.
  • Melver C; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, 44308, USA.
  • Cunningham M; Division of Medical Genetics, Akron Children's Hospital, Akron, OH, 44308, USA.
  • Hing A; Division of Craniofacial Medicine, University of Washington Department of Pediatrics, Jean Renny Chair of Craniofacial Medicine, Seattle Children's Craniofacial Center, Seattle, WA, 98105, USA.
  • Kokitsu-Nakata NM; Division of Craniofacial Medicine, University of Washington Department of Pediatrics, Jean Renny Chair of Craniofacial Medicine, Seattle Children's Craniofacial Center, Seattle, WA, 98105, USA.
  • Vendramini-Pittoli S; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, 17012-900, Brazil.
  • Richieri-Costa A; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, 17012-900, Brazil.
  • Baas AF; Department of Clinical Genetics, Hospital for Rehabilitation of Craniofacial Anomalies (HRCA), University of São Paulo, Bauru, 17012-900, Brazil.
  • Breugem CC; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands.
  • Duran K; Department of Pediatric Plastic Surgery, Wilhelmina Children's Hospital, University Medical Centre Utrecht, Utrecht, 3584EA, The Netherlands.
  • Massink M; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands.
  • Derksen PWB; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands.
  • van IJcken WFJ; Department of Pathology, University Medical Center Utrecht, Utrecht, 3584CX, The Netherlands.
  • van Unen L; Erasmus Center for Biomics, Erasmus Medical Center, Rotterdam, 3015CN, The Netherlands.
  • Santos-Simarro F; Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, 3015CN, The Netherlands.
  • Lapunzina P; INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, CIBERER, ISCIII, Madrid, 28049, Spain.
  • Gil-da Silva Lopes VL; INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, CIBERER, ISCIII, Madrid, 28049, Spain.
  • Lustosa-Mendes E; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, UNICAMP, Campinas, São Paulo, 13083-970, Brazil.
  • Krall M; Department of Medical Genetics, Faculty of Medical Sciences, University of Campinas, UNICAMP, Campinas, São Paulo, 13083-970, Brazil.
  • Slavotinek A; Department of Pediatrics, University of California, San Francisco, Benioff Children's Hospital, San Francisco, CA, 94158, USA.
  • Martinez-Glez V; Department of Pediatrics, University of California, San Francisco, Benioff Children's Hospital, San Francisco, CA, 94158, USA.
  • Bakkers J; INGEMM, Institute of Medical and Molecular Genetics, Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ, CIBERER, ISCIII, Madrid, 28049, Spain.
  • van Gassen KLI; Hubrecht Institute-KNAW and University Medical Center Utrecht, Utrecht, 3584CT, The Netherlands.
  • de Klein A; Department of Medical Physiology, Division of Heart and Lungs, University Medical Center Utrecht, Utrecht, 3584CM, The Netherlands.
  • van den Boogaard MH; Department of Genetics, Center for Molecular Medicine, University Medical Center Utrecht, Utrecht, 3584CG, The Netherlands.
  • van Haaften G; Department of Clinical Genetics, Erasmus Medical Center Rotterdam, Rotterdam, 3015CN, The Netherlands.
Eur J Hum Genet ; 26(2): 210-219, 2018 02.
Article em En | MEDLINE | ID: mdl-29348693
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Dentárias / Antígenos CD / Caderinas / Fenda Labial / Fissura Palatina / Ectrópio / Cateninas / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Dentárias / Antígenos CD / Caderinas / Fenda Labial / Fissura Palatina / Ectrópio / Cateninas / Mutação Tipo de estudo: Prognostic_studies Limite: Adolescent / Adult / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article