Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?-Reference-Cited by-同舟云学术

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Lissencephaly, IgG subclass immunodeficiency, and a connective tissue disorder: a new syndrome?

Published:2009-09-19 Issue:12 Volume:256 Page:2087-2090
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Ehlayel Mohammad S.,Ben-Omran Tawfeg,Bhat Venkatraman,Teebi Ahmad S.

Publisher

Springer Science and Business Media LLC

Subject

Clinical Neurology,Neurology

Link

http://link.springer.com/content/pdf/10.1007/s00415-009-5280-6.pdf

Reference11 articles.

1. Poirier K (2007) Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat 28(11):1055–1064

2. Krawinkel MB, Ernst M, Feller A, Flad HD, Mueller-Hermelink HK, Ulmer AJ et al (1989) Lissencephaly, abnormal lymph nodes, and T-cell deficiency in one patient. Am J Med Genet 33:436–443

3. Attia-Sobol J, Encha-Razavi F, Hermier M, Vitrey D, Verloes A, Plauchu H (2001) Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome. Am J Med Genet 99:14–20

4. Popken-Harris P, Ketover S, Pierpont ME (2001) The prevalence of non-surgical complications in the Ehlers-Danlos syndrome. EDS Today, Seattle

5. Bazan NG (2003) Synaptic lipid signaling: significance of polyunsaturated fatty acids and platelet-activating factor. J Lipid Res 44:2221–2233

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