Your browser doesn't support javascript.
loading
DLG5 variants are associated with multiple congenital anomalies including ciliopathy phenotypes.
Marquez, Jonathan; Mann, Nina; Arana, Kathya; Deniz, Engin; Ji, Weizhen; Konstantino, Monica; Mis, Emily K; Deshpande, Charu; Jeffries, Lauren; McGlynn, Julie; Hugo, Hannah; Widmeier, Eugen; Konrad, Martin; Tasic, Velibor; Morotti, Raffaella; Baptista, Julia; Ellard, Sian; Lakhani, Saquib Ali; Hildebrandt, Friedhelm; Khokha, Mustafa K.
Afiliação
  • Marquez J; Pediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Mann N; Division of Nephrology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Arana K; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Deniz E; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Ji W; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Konstantino M; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Mis EK; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Deshpande C; Department of Clinical Genetics, Guy's Hospital, London, UK.
  • Jeffries L; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
  • McGlynn J; Department of Obstetrics, Gynecology, and Reproductive Sciences, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Hugo H; Division of Nephrology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Widmeier E; Division of Nephrology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
  • Konrad M; Department of General Pediatrics, University Hospital Münster, Münster, Germany.
  • Tasic V; Department of Pediatric Nephrology, University Children's Hospital, Skopje, North Macedonia.
  • Morotti R; Department of Pathology, Yale University School of Medicine, New Haven, Connecticut, USA.
  • Baptista J; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
  • Ellard S; Institute of Biomedical & Clinical Science, College of Medicine and Health, Exeter, UK.
  • Lakhani SA; Exeter Genomics Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.
  • Hildebrandt F; Institute of Biomedical & Clinical Science, College of Medicine and Health, Exeter, UK.
  • Khokha MK; Pediatric Genomics Discovery Program, Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, USA.
J Med Genet ; 58(7): 453-464, 2021 07.
Article em En | MEDLINE | ID: mdl-32631816
Assuntos
Palavras-chave
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Proteínas Supressoras de Tumor / Ciliopatias / Proteínas de Membrana / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Proteínas Supressoras de Tumor / Ciliopatias / Proteínas de Membrana / Mutação Idioma: En Ano de publicação: 2021 Tipo de documento: Article