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The pZRS non-coding regulatory mutation resulting in triphalangeal thumb-polysyndactyly syndrome changes the pattern of local interactions.
Potuijt, Jacob W P; Sowinska-Seidler, Anna; Bukowska-Olech, Ewelina; Nguyen, Picard; Jankowski, Aleksander; Magielsen, Frank; Matuszewska, Karolina; van Nieuwenhoven, Christianne A; Galjaard, Robert-Jan H; de Klein, Annelies; Jamsheer, Aleksander.
Afiliação
  • Potuijt JWP; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Sowinska-Seidler A; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806, Poznan, Poland. seidler@ump.edu.pl.
  • Bukowska-Olech E; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806, Poznan, Poland.
  • Nguyen P; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Jankowski A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Magielsen F; Faculty of Mathematics, Informatics and Mechanics, University of Warsaw, Warsaw, Poland.
  • Matuszewska K; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • van Nieuwenhoven CA; Department of Medical Genetics, Poznan University of Medical Sciences, Rokietnicka 8 Street, 60-806, Poznan, Poland.
  • Galjaard RH; Centers for Medical Genetics GENESIS, Poznan, Poland.
  • de Klein A; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
  • Jamsheer A; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands.
Mol Genet Genomics ; 297(5): 1343-1352, 2022 Sep.
Article em En | MEDLINE | ID: mdl-35821352
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Polidactilia / Proteínas Hedgehog / Disostose Mandibulofacial Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Polidactilia / Proteínas Hedgehog / Disostose Mandibulofacial Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article