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The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Stevens, Servi J C; Stumpel, Constance T R M; Diderich, Karin E M; van Slegtenhorst, Marjon A; Abbott, Mary-Alice; Manning, Courtney; Balciuniene, Jorune; Pyle, Louise C; Leonard, Jacqueline; Murrell, Jill R; van de Putte, Romy; van Rooij, Iris A L M; Hoischen, Alexander; Lasko, Paul; Brunner, Han G.
Afiliação
  • Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.
  • Stumpel CTRM; Department of Clinical Genetics, Maastricht University Medical Centre and GROW School for Oncology and Developmental Biology, Maastricht University, Maastricht, the Netherlands.
  • Diderich KEM; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.
  • van Slegtenhorst MA; Department of Clinical Genetics, Erasmus Medical Centre, Rotterdam, the Netherlands.
  • Abbott MA; Department of Pediatrics, University of Massachusetts Medical School-Baystate, Springfield, Massachusetts, USA.
  • Manning C; Department of Pediatrics, University of Massachusetts Medical School-Baystate, Springfield, Massachusetts, USA.
  • Balciuniene J; Division of Human Genetics and the Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Pyle LC; Division of Human Genetics and the Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Leonard J; Division of Human Genetics and the Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Murrell JR; Division of Human Genetics and the Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • van de Putte R; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
  • van Rooij IALM; Department for Health Evidence, Radboud Institute for Health Sciences, Radboud University Medical Center, Nijmegen, the Netherlands.
  • Hoischen A; Department of Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Lasko P; Department of Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands.
  • Brunner HG; Department of Biology, McGill University, Montréal, Québec, Canada.
Clin Genet ; 101(2): 183-189, 2022 02.
Article em En | MEDLINE | ID: mdl-34671974
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Região Sacrococcígea / Anormalidades Múltiplas / Predisposição Genética para Doença / Fator de Transcrição CDX2 / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Fenótipo / Região Sacrococcígea / Anormalidades Múltiplas / Predisposição Genética para Doença / Fator de Transcrição CDX2 / Mutação Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Child / Female / Humans / Infant / Male / Newborn Idioma: En Revista: Clin Genet Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Holanda