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Identification of a novel variant of the ciliopathic gene FUZZY associated with craniosynostosis.
Barrell, William B; Adel Al-Lami, Hadeel; Goos, Jacqueline A C; Swagemakers, Sigrid M A; van Dooren, Marieke; Torban, Elena; van der Spek, Peter J; Mathijssen, Irene M J; Liu, Karen J.
Afiliação
  • Barrell WB; Centre for Craniofacial and Regenerative Biology, King's College London, London, SE1 9RT, UK.
  • Adel Al-Lami H; Centre for Craniofacial and Regenerative Biology, King's College London, London, SE1 9RT, UK.
  • Goos JAC; Department of Orthodontics, College of Dentistry, University of Baghdad, Baghdad, Iraq.
  • Swagemakers SMA; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus University Medical Centre, Rotterdam, The Netherlands.
  • van Dooren M; Department of Bioinformatics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
  • Torban E; Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus University Medical Centre, Rotterdam, The Netherlands.
  • van der Spek PJ; Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
  • Mathijssen IMJ; Department of Medicine, McGill University Health Centre, Montreal, Canada.
  • Liu KJ; Department of Bioinformatics, Erasmus University Medical Centre, Rotterdam, The Netherlands.
Eur J Hum Genet ; 30(3): 282-290, 2022 03.
Article em En | MEDLINE | ID: mdl-34719684
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Craniossinostoses / Proteínas do Citoesqueleto / Peptídeos e Proteínas de Sinalização Intracelular / Proteínas Hedgehog Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Craniossinostoses / Proteínas do Citoesqueleto / Peptídeos e Proteínas de Sinalização Intracelular / Proteínas Hedgehog Tipo de estudo: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Reino Unido