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A wide spectrum of phenotypes in a family with renal coloboma syndrome caused by a PAX2 mutation.
Adam, Jennifer; Browning, Andrew C; Vaideanu, Daniela; Heidet, Laurence; Goodship, Judith A; Sayer, John A.
Afiliación
  • Adam J; Renal Unit , Freeman Hospital, Newcastle upon Tyne NHS Hospitals Foundation Trust , Newcastle Upon Tyne , UK.
  • Browning AC; Opthalmology Department, Royal Victoria Infirmary , Newcastle upon Tyne NHS Hospitals Foundation Trust , Newcastle Upon Tyne , UK.
  • Vaideanu D; Opthalmology Department, Royal Victoria Infirmary , Newcastle upon Tyne NHS Hospitals Foundation Trust , Newcastle Upon Tyne , UK.
  • Heidet L; APHP, Centre de Référence des Maladies Rénales Héréditaires de l'Enfant et de l'Adulte, Paris , France.
  • Goodship JA; Institute of Genetic Medicine , Newcastle University , Newcastle Upon Tyne , UK.
  • Sayer JA; Renal Unit, Freeman Hospital, Newcastle upon Tyne NHS Hospitals Foundation Trust, Newcastle Upon Tyne, UK; Institute of Genetic Medicine, Newcastle University, Newcastle Upon Tyne, UK.
Clin Kidney J ; 6(4): 410-3, 2013 Aug.
Article en En | MEDLINE | ID: mdl-27293569

Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Clin Kidney J Año: 2013 Tipo del documento: Article

Texto completo: 1 Base de datos: MEDLINE Tipo de estudio: Prognostic_studies Idioma: En Revista: Clin Kidney J Año: 2013 Tipo del documento: Article