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A point mutation in the pre-ZRS disrupts sonic hedgehog expression in the limb bud and results in triphalangeal thumb-polysyndactyly syndrome.
Potuijt, Jacob W P; Baas, Martijn; Sukenik-Halevy, Rivka; Douben, Hannie; Nguyen, Picard; Venter, Deon J; Gallagher, Renée; Swagemakers, Sigrid M; Hovius, Steven E R; van Nieuwenhoven, Christianne A; Galjaard, Robert-Jan H; van der Spek, Peter J; Ahituv, Nadav; de Klein, Annelies.
Afiliación
  • Potuijt JWP; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands. j.potuijt@erasmusmc.nl.
  • Baas M; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Sukenik-Halevy R; Department of Bioengineering and Therapeutic Sciences, University of California-San Francisco, San Francisco, California, USA.
  • Douben H; Institute for Human Genetics, University of California-San Francisco, San Francisco, California, USA.
  • Nguyen P; Sackler School of Medicine, Tel-Aviv University, Tel Aviv, Israel.
  • Venter DJ; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Gallagher R; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Swagemakers SM; Department of Pathology, Mater Health Services, South Brisbane, Queensland, Australia.
  • Hovius SER; Department of Neuropathology, Royal Prince Alfred Hospital, Camperdown, Sydney, Australia.
  • van Nieuwenhoven CA; School of Medicine, University of Wollongong, Wollongong, New South Wales, Australia.
  • Galjaard RH; Department of Pathology, Mater Health Services, South Brisbane, Queensland, Australia.
  • van der Spek PJ; Department of Bioinformatics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Ahituv N; Department of Pathology, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • de Klein A; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Genet Med ; 20(11): 1405-1413, 2018 11.
Article en En | MEDLINE | ID: mdl-29543231
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Predisposición Genética a la Enfermedad / Proteínas Hedgehog / Disostosis Mandibulofacial / Proteínas de la Membrana Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Anomalías Congénitas / Predisposición Genética a la Enfermedad / Proteínas Hedgehog / Disostosis Mandibulofacial / Proteínas de la Membrana Tipo de estudio: Prognostic_studies Límite: Animals / Female / Humans / Male Idioma: En Revista: Genet Med Asunto de la revista: GENETICA MEDICA Año: 2018 Tipo del documento: Article País de afiliación: Países Bajos