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Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report.
Sahli, Maryem; Zrhidri, Abdelali; Boualaoui, Imad; Cherkaoui Jaouad, Imane; El Kadiri, Youssef; Nouini, Yassine; Sefiani, Abdelaziz.
Affiliation
  • Sahli M; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco. sahlimaryem1990@gmail.com.
  • Zrhidri A; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.
  • Boualaoui I; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Faculty of Medicine and Pharmacy, Genomic Center of Human Pathologies, Mohammed V University in Rabat, Rabat, Morocco.
  • Cherkaoui Jaouad I; Department of Urology A, Ibn Sina Hospital, Mohammed V University, Rabat, Morocco.
  • El Kadiri Y; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.
  • Nouini Y; Department of Medical Genetics, National Institute of Health in Rabat, BP 769 Agdal, 10 090, Rabat, Morocco.
  • Sefiani A; Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Faculty of Medicine and Pharmacy, Genomic Center of Human Pathologies, Mohammed V University in Rabat, Rabat, Morocco.
J Med Case Rep ; 17(1): 409, 2023 Sep 27.
Article in En | MEDLINE | ID: mdl-37752530
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Wolfram Syndrome / Optic Atrophy / Diabetes Mellitus, Type 1 Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child / Child, preschool / Humans / Male Language: En Journal: J Med Case Rep Year: 2023 Document type: Article Affiliation country: Country of publication:
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Wolfram Syndrome / Optic Atrophy / Diabetes Mellitus, Type 1 Type of study: Diagnostic_studies / Prognostic_studies Limits: Adult / Child / Child, preschool / Humans / Male Language: En Journal: J Med Case Rep Year: 2023 Document type: Article Affiliation country: Country of publication: