A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation-Reference-Cited by-同舟云学术

A rare male patient with classic Rett syndrome caused by MeCP2_e1 mutation

Published:2018-01-17 Issue:3 Volume:176 Page:699-702
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Tokaji Narumi¹,Ito Hiromichi¹,Kohmoto Tomohiro²,Naruto Takuya²,Takahashi Rizu²,Goji Aya¹,Mori Tatsuo¹,Toda Yoshihiro¹,Saito Masako²,Tange Shoichiro²,Masuda Kiyoshi²,Kagami Shoji¹,Imoto Issei²^ORCID

Affiliation:

1. Departmentof Paediatrics, Graduate School of Biomedical Sciences; Tokushima University; Tokushima Japan

2. Department of Human Genetics; Graduate School of Biomedical Sciences; Tokushima University; Tokushima Japan

Funder

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference18 articles.

1. Classic Rett syndrome in a boy as a result of somatic mosaicism for a MECP2 mutation;Armstrong;Annals of Neurology,2001

2. Mutations in MECP2 exon 1 in classical rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2;Gianakopoulos;American Journal of Medical Genetics Part B Neuropsychiatric Genetics,2012

3. The major form of MeCP2 has a novel N-terminus generated by alternative splicing;Kriaucionis;Nucleic Acids Research,2004

4. Clinical severity and quality of life in children and adolescents with Rett syndrome;Lane;Neurology,2011

5. A mutation in the rett syndrome gene, MECP2, causes X-linked mental retardation and progressive spasticity in males;Meloni;American Journal of Human Genetics,2000

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