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Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.
Alaei, Mohammad Reza; Talebi, Saeed; Ghofrani, Mohammad; Taghizadeh, Mohsen; Keramatipour, Mohammad.
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  • Alaei MR; Department of Pediatric Endocrinology, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
  • Talebi S; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  • Ghofrani M; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  • Taghizadeh M; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  • Keramatipour M; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Iran Biomed J ; 20(5): 295-301, 2016 Nov.
Article en En | MEDLINE | ID: mdl-27452399
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Encefalopatías / Discapacidades del Desarrollo / Predisposición Genética a la Enfermedad / Subunidades gamma de la Proteína de Unión al GTP / Lipodistrofia Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Trastorno Autístico / Encefalopatías / Discapacidades del Desarrollo / Predisposición Genética a la Enfermedad / Subunidades gamma de la Proteína de Unión al GTP / Lipodistrofia Tipo de estudio: Prognostic_studies Límite: Child / Humans / Male Idioma: En Año: 2016 Tipo del documento: Article