Mental retardation, spasticity, basal ganglia calcification, cerebral white matter lesions, multiple endocrine defects, telangiectasia and atrophic skin : A new syndrome?

• SAITO Yoshiaki

  Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University

• TOYOSHIMA Mitsuo

  Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University

• OKA Akira

  Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University

• ZHUO Luan

  Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University

• MORIWAKI Shin-ichi

  Department of Dermatology, Osaka Medical College

• YAMAMOTO Osamu

  Division of Dermatology, Faculty of Medicine, Tottori University

• KANZAKI Susumu

  Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University

• HANAKI Kei-ichi

  Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University

• NINOMIYA Haruaki

  Department of Neurobiology, Faculty of Medicine, Tottori University

• NANBA Eiji

  Division of Functional Genomics, Research Center for Bioscience and Technology, Tottori University

• KONDO Akiko

  Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University

• MAEGAKI Yoshihiro

  Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University

• OHNO Kousaku

  Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University

Journal

• Brain Dev

  Brain Dev 30 (3), 221-225, 2008-03-01

Keywords

• Neurocutaneous syndrome
• DNA repair
• Riboflavin
• Cockayne syndrome
• Rothmund-Thomson syndrome

Details

• CRID: 1572261550752868480
• NII Article ID: 10025169655
• NII Book ID: AA00111153
• ISSN: 03877604
• Web Site: https://search.jamas.or.jp/link/ui/2008187990
• Text Lang: en
• Data Source:
  • CiNii Articles