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Variant type and position predict two distinct limb phenotypes in patients with GLI3-mediated polydactyly syndromes.
Baas, Martijn; Burger, Elise Bette; van den Ouweland, Ans Mw; Hovius, Steven Er; de Klein, Annelies; van Nieuwenhoven, Christianne A; Galjaard, Robert Jan H.
Afiliación
  • Baas M; Plastic, Reconstructive and Hand Surgery, Erasmus MC, Rotterdam, The Netherlands m.baas@erasmusmc.nl.
  • Burger EB; Plastic, Reconstructive and Hand Surgery, Erasmus MC, Rotterdam, The Netherlands.
  • van den Ouweland AM; Clinical Genetics, Erasmus MC, Rotterdam, Zuid-Holland, The Netherlands.
  • Hovius SE; Plastic, Reconstructive and Hand Surgery, Radboud University Nijmegen, Nijmegen, Gelderland, The Netherlands.
  • de Klein A; Hand and Wrist Centre, Xpert Clinic, Eindhoven, The Netherlands.
  • van Nieuwenhoven CA; Clinical Genetics, Erasmus MC, Rotterdam, Zuid-Holland, The Netherlands.
  • Galjaard RJH; Plastic, Reconstructive and Hand Surgery, Erasmus MC, Rotterdam, The Netherlands.
J Med Genet ; 58(6): 362-368, 2021 06.
Article en En | MEDLINE | ID: mdl-32591344

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Polidactilia / Deformidades Congénitas de las Extremidades / Proteína Gli3 con Dedos de Zinc / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Polidactilia / Deformidades Congénitas de las Extremidades / Proteína Gli3 con Dedos de Zinc / Proteínas del Tejido Nervioso Tipo de estudio: Prognostic_studies / Risk_factors_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article