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Multi affected pedigree with congenital microcephaly: WES revealed PNKP gene mutation.
Entezam, Mona; Razipour, Masoumeh; Talebi, Saeed; Beiraghi Toosi, Mehran; Keramatipour, Mohammad.
Affiliation
  • Entezam M; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Department of Medical Genetics, School of Medicine, Shiraz University of Medical Sciences, Shiraz, Iran.
  • Razipour M; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
  • Talebi S; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Department of Medical Genetics and Molecular Biology, Faculty of Medicine, Iran University of Medical Sciences (IUMS), Tehran, Iran.
  • Beiraghi Toosi M; Department of Pediatric Diseases, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
  • Keramatipour M; Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Pishgam Biotech Company, Tehran, Iran. Electronic address: keramatipour@sina.tums.ac.ir.
Brain Dev ; 41(2): 182-186, 2019 Feb.
Article in En | MEDLINE | ID: mdl-30195441
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphotransferases (Alcohol Group Acceptor) / Mutation, Missense / DNA Repair Enzymes / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Male Language: En Journal: Brain Dev Year: 2019 Document type: Article Affiliation country: Irán Country of publication: Países Bajos
Fulltext
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Print
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Phosphotransferases (Alcohol Group Acceptor) / Mutation, Missense / DNA Repair Enzymes / Microcephaly Type of study: Diagnostic_studies / Prognostic_studies Limits: Adolescent / Adult / Child, preschool / Female / Humans / Male Language: En Journal: Brain Dev Year: 2019 Document type: Article Affiliation country: Irán Country of publication: Países Bajos