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A novel detrimental homozygous mutation in the WFS1 gene in two sisters from nonconsanguineous parents with untreated diabetes insipidus.
Papadimitriou, Dimitrios T; Kleanthous, Kleanthis; Manolakos, Emmanouil; Tiulpakov, Anatoly; Nikolopoulos, Thomas; Delides, Alexandros; Voros, Gerasimos; Dinopoulos, Argyrios; Zoupanos, George; Papadimitriou, Anastasios; Mastorakos, Georgios; Urano, Fumihiko.
Afiliación
  • Papadimitriou DT; Department of Pediatric Endocrinology & Diabetes Athens Medical Center Athens Greece.
  • Kleanthous K; Department of Pediatric Endocrinology & Diabetes Athens Medical Center Athens Greece.
  • Manolakos E; Department of Pediatric Endocrinology and Diabetes Attikon University Hospital Athens Greece.
  • Tiulpakov A; Access to Genome Athens-Thessaloniki Athens Greece.
  • Nikolopoulos T; Department and Laboratory of Inherited Endocrine Disorders Endocrinology Research Centre Moscow Russia.
  • Delides A; Department of Pediatric Otorhinolaryngology Attikon University Hospital Athens Greece.
  • Voros G; Department of Pediatric Otorhinolaryngology Attikon University Hospital Athens Greece.
  • Dinopoulos A; Department of Pediatric Otorhinolaryngology Athens Medical Center Athens Greece.
  • Zoupanos G; Department of Pediatric Ophthalmology Athens Medical Center Athens Greece.
  • Papadimitriou A; Department of Pediatric Neurology Attikon University Hospital Athens Greece.
  • Mastorakos G; Department of Pediatric Urology Athens Medical Center Athens Greece.
  • Urano F; Department of Pediatric Endocrinology and Diabetes Attikon University Hospital Athens Greece.
Clin Case Rep ; 7(12): 2355-2357, 2019 Dec.
Article en En | MEDLINE | ID: mdl-31893057
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2019 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Idioma: En Revista: Clin Case Rep Año: 2019 Tipo del documento: Article