An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities-Reference-Cited by-同舟云学术

An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities

Published:2014-03-20 Issue:6 Volume:59 Page:300-306
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Yamamoto Toshiyuki,Wilsdon Anna,Joss Shelagh,Isidor Bertrand,Erlandsson Anna,Suri Mohnish,Sangu Noriko,Shimada Shino,Shimojima Keiko,Le Caignec Cédric,Samuelsson Lena,Stefanova Margarita

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg201421.pdf

Reference22 articles.

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2. Inoue, K. PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics 6, 1–16 (2005).

3. Shimojima, K., Inoue, T., Hoshino, A., Kakiuchi, S., Watanabe, Y., Sasaki, M. et al. Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications. Brain Dev. 32, 171–179 (2010).

4. Inoue, K., Osaka, H., Thurston, V. C., Clarke, J. T., Yoneyama, A., Rosenbarker, L. et al. Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females. Am. J. Hum. Genet. 71, 838–853 (2002).

5. Torisu, H., Iwaki, A., Takeshita, K., Hiwatashi, A., Sanefuji, M., Fukumaki, Y. et al. Clinical and genetic characterization of a 2-year-old boy with complete PLP1 deletion. Brain Dev. 34, 852–856 (2012).

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