Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family-Reference-Cited by-同舟云学术

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Clinical and molecular genetic characterization of familial MECP2 duplication syndrome in a Chinese family

Published:2017-11-15 Issue:1 Volume:18 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Li Xiaoyan,Xie Hua,Chen Qian,Yu Xiongying,Yi Zhaoshi,Li Erzhen,Zhang Ting,Wang Jian,Zhong Jianmin,Chen Xiaoli^ORCID

Funder

the Capital Health Research and Development of Special

the National Nature Science Fund

the advanced Personnel Training Program of Beijing Municipal Health Bureau to XLC

Beijing nova program interdisciplinary collaborative project to XLC

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-017-0486-4.pdf

Reference39 articles.

1. Bassani S, Zapata J, Gerosa L, Moretto E, Murru L, Passafaro M. The neurobiology of X-linked intellectual disability. The Neuroscientist. 2013;19(5):541–52.

2. Gecz J, Shoubridge C, Corbett M. The genetic landscape of intellectual disability arising from chromosome X. Trends Genet. 2009;25(7):308–16.

3. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY. Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet. 1999;23(2):185–8.

4. Meins M, Lehmann J, Gerresheim F, Herchenbach J, Hagedorn M, Hameister K, et al. Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome. J Med Genet. 2005;42(2):e12.

5. Bauer M, Kolsch U, Kruger R, Unterwalder N, Hameister K, Kaiser FM, et al. Infectious and immunologic phenotype of MECP2 duplication syndrome. J Clin Immunol. 2015;35(2):168–81.

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1. Methyl-CpG-Binding protein 2 duplication syndrome in a Chinese patient: A case report and review of the literature;World Journal of Clinical Cases;2023-09-26

2. Combined MECP2 duplication syndrome and ADNP syndrome in a Chinese boy: a case report and literature review;2023-07-31

3. Spectrum of MECP2 mutations in Iranian Azeri Turkish Rett syndrome patients;Neurology Asia;2023-06

4. Human MECP2 transgenic rats show increased anxiety, severe social deficits, and abnormal prefrontal neural oscillation stability;Biochemical and Biophysical Research Communications;2023-03

5. IRAK1 Duplication in MECP2 Duplication Syndrome Does Not Increase Canonical NF-κB–Induced Inflammation;Journal of Clinical Immunology;2022-11-02

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