A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome-Reference-Cited by-同舟云学术

A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome

Published:2010-10-22 Issue:1 Volume:129 Page:45-50
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Borck Guntram,Wunram Heidrun,Steiert Angela,Volk Alexander E.,Körber Friederike,Roters Sigrid,Herkenrath Peter,Wollnik Bernd,Morris-Rosendahl Deborah J.,Kubisch Christian

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-010-0896-2.pdf

Reference11 articles.

1. Abdel-Salam GM, Hassan NA, Kayed HF, Aligianis IA (2007) Phenotypic variability in Micro syndrome: report of new cases. Genet Couns 18:423–435

2. Aligianis IA, Johnson CA, Gissen P, Chen D, Hampshire D, Hoffmann K, Maina EN, Morgan NV, Tee L, Morton J, Ainsworth JR, Horn D, Rosser E, Cole TR, Stolte-Dijkstra I, Fieggen K, Clayton-Smith J, Mégarbané A, Shield JP, Newbury-Ecob R, Dobyns WB, Graham JM Jr, Kjaer KW, Warburg M, Bond J, Trembath RC, Harris LW, Takai Y, Mundlos S, Tannahill D, Woods CG, Maher ER (2005) Mutations of the catalytic subunit of RAB3GAP cause Warburg Micro syndrome. Nat Genet 37:221–223

3. Aligianis IA, Morgan NV, Mione M, Johnson CA, Rosser E, Hennekam RC, Adams G, Trembath RC, Pilz DT, Stoodley N, Moore AT, Wilson S, Maher ER (2006) Mutation in Rab3 GTPase-activating protein (RAB3GAP) noncatalytic subunit in a kindred with Martsolf syndrome. Am J Hum Genet 78:702–707

4. Corbeel L, Freson K (2008) Rab proteins and Rab-associated proteins: major actors in the mechanism of protein-trafficking disorders. Eur J Pediatr 167:723–729

5. Derbent M, Agras PI, Gedik S, Oto S, Alehan F, Saatci U (2004) Congenital cataract, microphthalmia, hypoplasia of corpus callosum and hypogenitalism: report and review of Micro syndrome. Am J Med Genet A 128A:232–234

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