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Classic Rett syndrome in a boy with R133C mutation of MECP2

  • Published:2005-09 Issue:6 Volume:27 Page:439-442
  • ISSN:0387-7604
  • Container-title:Brain and Development
  • language:en
  • Short-container-title:Brain and Development

Author:

Masuyama Tatsuo,Matsuo Muneaki,Jing Jin J.,Tabara Yasuharu,Kitsuki Kyoko,Yamagata Hidehisa,Kan Yuka,Miki Tetsuro,Ishii Kiyohisa,Kondo Ikuko

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference17 articles.

1. On an unusual brain atrophy syndrome in hyperammonemia in childhood (in German);Rett;Wien Med Wochenschr,1966

2. Neonatal encephalopathy in two boys in families with recurrent Rett syndrome;Schanen;J Child Neurol,1998

3. Is classical Rett syndrome ever present in males?;Coleman;Brain Dev,1990

4. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2;Amir;Nature Genet,1999

5. Molecular genetics of Rett syndrome and clinical spectrum of MECP2 mutations;Shahbazian;Curr Opin Neurol,2001

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1. A Review on Rett Syndrome: A Debilitating Neurodevelopmental Disorder;Research Journal of Pharmacology and Pharmacodynamics;2023-11-09

2. Development and Psychometric Properties of the Multi-System Profile of Symptoms Scale in Patients with Rett Syndrome;Journal of Clinical Medicine;2022-08-30

3. MECP2-Related Disorders in Males;International Journal of Molecular Sciences;2021-09-04

4. MECP2-related conditions in males: A systematic literature review and 8 additional cases;European Journal of Paediatric Neurology;2021-09

5. Induced pluripotent stem cells for modeling of Rett Syndrome;iPSCs for Modeling Central Nervous System Disorders;2021
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