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Compound heterozygous Pkd1l1 variants in a family with two fetuses affected by heterotaxy and complex Chd.
Le Fevre, Anna; Baptista, Julia; Ellard, Sian; Overton, Timothy; Oliver, Ann; Gradhand, Elise; Scurr, Ingrid.
Afiliação
  • Le Fevre A; Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK.
  • Baptista J; Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, UK; University of Exeter Medical School, University of Exeter, UK.
  • Ellard S; Department of Molecular Genetics, Royal Devon & Exeter NHS Foundation Trust, UK; University of Exeter Medical School, University of Exeter, UK.
  • Overton T; Department of Fetal Medicine, St. Michael's Hospital, Bristol, UK.
  • Oliver A; Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK.
  • Gradhand E; Paediatric and Perinatal Pathology, Department of Cellular Pathology, North Bristol NHS Trust, Bristol, UK.
  • Scurr I; Department of Clinical Genetics, University Hospitals Bristol, Bristol, UK. Electronic address: Ingrid.Scurr@UHBristol.nhs.uk.
Eur J Med Genet ; 63(2): 103657, 2020 Feb.
Article em En | MEDLINE | ID: mdl-31026592
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Feto / Síndrome de Heterotaxia / Proteínas de Membrana Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Feto / Síndrome de Heterotaxia / Proteínas de Membrana Limite: Female / Humans / Male / Pregnancy Idioma: En Revista: Eur J Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Reino Unido