Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement-Reference-Cited by-同舟云学术

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Microdeletions of 3p21.31 characterized by developmental delay, distinctive features, elevated serum creatine kinase levels, and white matter involvement

Published:2013-08-16 Issue:12 Volume:161 Page:3049-3056
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Eto Kaoru¹,Sakai Norio²,Shimada Shino¹³,Shioda Mutsuki¹,Ishigaki Keiko¹,Hamada Yusuke²,Shinpo Michiko²,Azuma Junji²,Tominaga Koji²,Shimojima Keiko³,Ozono Keiichi²,Osawa Makiko¹,Yamamoto Toshiyuki³

Affiliation:

1. Department of Pediatrics; Tokyo Women's Medical University; Tokyo Japan

2. Department of Pediatrics; Osaka University Graduate School of Medicine; Suita Japan

3. Tokyo Women's Medical University Institute for Integrated Medical Sciences; Tokyo Japan

Funder

Ministry of Education, Culture, Sports, Science and Technology

Ministry of Health, Labor, and Welfare, Japan

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.36156/fullpdf

Reference31 articles.

1. Functional inactivation of a fraction of excitatory synapses in mice deficient for the active zone protein bassoon;Altrock;Neuron,2003

2. Molecular cytogenetic characterization of a subtle interstitial del(3)(p25.3p26.2) in a patient with deletion 3p syndrome;Cargile;Am J Med Genet,2002

3. Molecular characterization of a patient with 3p deletion syndrome and a review of the literature;Fernandez;Am J Med Genet Part A,2008

4. Molecular characterization and clinical features of a patient with an interstitial deletion of 3p25.3-p26.1;Gunnarsson;Am J Med Genet Part A,2010

5. The zebrafish dag1 mutant: A novel genetic model for dystroglycanopathies;Gupta;Hum Mol Genet,2011

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3. Convergence of biomarkers and risk factor trait loci of coronary artery disease at 3p21.31 and HLA region;npj Genomic Medicine;2021-02-11

4. Genetic disorders with central nervous system white matter abnormalities: An update;Clinical Genetics;2020-10-20

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