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Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants.
Boczek, Nicole J; Hopp, Katharina; Benoit, Lacey; Kraft, Daniel; Cousin, Margot A; Blackburn, Patrick R; Madsen, Charles D; Oliver, Gavin R; Nair, Asha A; Na, Jie; Bianchi, Diana W; Beek, Geoffrey; Harris, Peter C; Pichurin, Pavel; Klee, Eric W.
Afiliação
  • Boczek NJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Hopp K; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Benoit L; Division of Renal Diseases and Hypertension, University of Colorado Denver, Aurora, CO, USA.
  • Kraft D; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.
  • Cousin MA; Division of Medical Genetics, Royal University Hospital, Saskatoon, Canada.
  • Blackburn PR; Department of Biochemical Genetics, Mayo Clinic, Rochester, MN, USA.
  • Madsen CD; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Oliver GR; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Nair AA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA.
  • Na J; Division of Nephrology and Hypertension, Mayo Clinic, Rochester, MN, USA.
  • Bianchi DW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Beek G; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA.
  • Harris PC; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA.
  • Pichurin P; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.
  • Klee EW; Division of Biomedical Statistics and Informatics, Mayo Clinic, Rochester, MN, USA.
Eur J Hum Genet ; 26(12): 1797-1809, 2018 12.
Article em En | MEDLINE | ID: mdl-30097616
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Orofaciodigitais / Fenótipo / Ciliopatias / Proteínas Associadas aos Microtúbulos Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido
Texto completo
Adicionar na Minha BVS
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Síndromes Orofaciodigitais / Fenótipo / Ciliopatias / Proteínas Associadas aos Microtúbulos Tipo de estudo: Guideline / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Adult / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: Eur J Hum Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido